Hugo_Symbol Entrez_Gene_Id Center NCBI_Build Chromosome Start_Position End_Position Strand Variant_Classification Variant_Type Reference_Allele Tumor_Seq_Allele1 Tumor_Seq_Allele2 dbSNP_RS dbSNP_Val_Status Tumor_Sample_Barcode Matched_Norm_Sample_Barcode Match_Norm_Seq_Allele1 Match_Norm_Seq_Allele2 Tumor_Validation_Allele1 Tumor_Validation_Allele2 Match_Norm_Validation_Allele1 Match_Norm_Validation_Allele2 Verification_Status Validation_Status Mutation_Status Sequencing_Phase Sequence_Source Validation_Method Score BAM_File Sequencer Tumor_Sample_UUID Matched_Norm_Sample_UUID chromosome_name start stop reference variant type gene_name transcript_name transcript_species transcript_source transcript_version strand transcript_status trv_type c_position amino_acid_change ucsc_cons domain all_domains deletion_substructures transcript_error default_gene_name gene_name_source ensembl_gene_id tier title header normal_ref_reads normal_var_reads normal_VAF tumor_ref_reads tumor_var_reads tumor_VAF AASS 0 genome.wustl.edu 37 7 121773649 121773649 + Silent SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 7 121773649 121773649 G C SNP AASS ENST00000393376 human ensembl 74_37 -1 known silent c.132 p.P44 0.043 pfam_AlaDH/PNT_N pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N - no_errors AASS HGNC ENSG00000008311 tier1 - - 116 0 0.00 118 10 7.75 ABCF3 0 genome.wustl.edu 37 3 183906155 183906155 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 183906155 183906155 C T SNP ABCF3 ENST00000429586 human ensembl 74_37 +1 known missense c.796 p.R266W 0.386 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF3 HGNC ENSG00000161204 tier1 - - 236 0 0.00 170 52 23.42 ACR 0 genome.wustl.edu 37 22 51178361 51178361 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 22 51178361 51178361 C T SNP ACR ENST00000216139 human ensembl 74_37 +1 known missense c.521 p.S174F 0.059 pirsf_Pept_S1A_acrosin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_acrosin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors ACR HGNC ENSG00000100312 tier1 - - 155 0 0.00 110 23 17.29 ADAM23 0 genome.wustl.edu 37 2 207424843 207424843 + Splice_Site SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 207424843 207424843 G A SNP ADAM23 ENST00000264377 human ensembl 74_37 +1 known splice_site c.1169+1 e11+1 1.000 - - - no_errors ADAM23 HGNC ENSG00000114948 tier1 - - 55 0 0.00 50 15 22.73 ADAM23 0 genome.wustl.edu 37 2 207460850 207460850 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 207460850 207460850 A G SNP ADAM23 ENST00000264377 human ensembl 74_37 +1 known missense c.2323 p.R775G 0.989 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 tier1 - - 63 0 0.00 57 7 10.94 ADAMTS19 0 genome.wustl.edu 37 5 128984637 128984637 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 5 128984637 128984637 T G SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.2132 p.L711R 0.992 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 tier1 - - 189 0 0.00 168 16 8.70 ADARB2 0 genome.wustl.edu 37 10 1284314 1284314 + Missense_Mutation SNP T T A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 1284314 1284314 T A SNP ADARB2 ENST00000381312 human ensembl 74_37 -1 known missense c.1241 p.K414M 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB2 HGNC ENSG00000185736 tier1 - - 20 0 0.00 7 10 58.82 ADCK1 0 genome.wustl.edu 37 14 78397959 78397959 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 14 78397959 78397959 C T SNP ADCK1 ENST00000238561 human ensembl 74_37 +1 known silent c.1305 p.N435 0.440 NULL pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom - no_errors ADCK1 HGNC ENSG00000063761 tier1 - - 124 0 0.00 104 9 7.96 ADSS 0 genome.wustl.edu 37 1 244615083 244615083 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 244615083 244615083 G A SNP ADSS ENST00000366535 human ensembl 74_37 -1 known silent c.37 p.L13 0.017 NULL pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSS HGNC ENSG00000035687 tier1 - - 22 0 0.00 20 5 20.00 AGAP2 0 genome.wustl.edu 37 12 58124619 58124619 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 58124619 58124619 C T SNP AGAP2 ENST00000547588 human ensembl 74_37 -1 known missense c.2263 p.G755R 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP2 HGNC ENSG00000135439 tier1 - - 54 0 0.00 43 9 17.31 AGO2 0 genome.wustl.edu 37 8 141551455 141551455 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 141551455 141551455 C T SNP AGO2 ENST00000220592 human ensembl 74_37 -1 known silent c.1842 p.V614 0.994 pfam_Piwi,superfamily_RNaseH-like_dom,smart_Piwi,pfscan_Piwi pfam_Piwi,pfam_PAZ_dom,pfam_DUF1785,superfamily_RNaseH-like_dom,superfamily_PAZ_dom,smart_PAZ_dom,smart_Piwi,pfscan_PAZ_dom,pfscan_Piwi - no_errors AGO2 HGNC ENSG00000123908 tier1 - - 40 0 0.00 29 10 25.64 AIG1 0 genome.wustl.edu 37 6 143605350 143605350 + Missense_Mutation SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 143605350 143605350 G C SNP AIG1 ENST00000275235 human ensembl 74_37 +1 known missense c.503 p.G168A 1.000 pfam_Far-17a_AIG1 pfam_Far-17a_AIG1 - no_errors AIG1 HGNC ENSG00000146416 tier1 - - 57 0 0.00 45 8 15.09 AKAP11 0 genome.wustl.edu 37 13 42875435 42875435 + Silent SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 13 42875435 42875435 A G SNP AKAP11 ENST00000025301 human ensembl 74_37 +1 known silent c.2553 p.K851 0.231 NULL NULL - no_errors AKAP11 HGNC ENSG00000023516 tier1 - - 70 0 0.00 79 6 7.06 AMPD1 0 genome.wustl.edu 37 1 115220099 115220099 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 115220099 115220099 G A SNP AMPD1 ENST00000520113 human ensembl 74_37 -1 known missense c.1360 p.H454Y 1.000 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 tier1 - - 114 0 0.00 83 8 8.79 ANGPT1 0 genome.wustl.edu 37 8 108334209 108334209 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 108334209 108334209 G A SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known silent c.723 p.T241 0.619 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 tier1 - - 138 0 0.00 126 24 15.89 ANKMY1 0 genome.wustl.edu 37 2 241494402 241494402 + Nonsense_Mutation SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 241494402 241494402 C A SNP ANKMY1 ENST00000361678 human ensembl 74_37 -1 known nonsense c.217 p.E73* 0.038 NULL pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY1 HGNC ENSG00000144504 tier1 - - 304 0 0.00 195 73 26.94 ANKRD20A11P 0 genome.wustl.edu 37 21 15311698 15311698 + RNA DEL G G - TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 21 15311698 15311698 G - DEL ANKRD20A11P ENST00000428576 human ensembl 74_37 -1 known rna NULL NULL 0.203 - - - no_errors ANKRD20A11P HGNC ENSG00000215559 tier1 40 0 0.00 22 12 35.29 ANKRD30A 0 genome.wustl.edu 37 10 37430822 37430822 + Nonsense_Mutation SNP G G T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 37430822 37430822 G T SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known nonsense c.829 p.E277* 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 tier1 - - 66 0 0.00 69 14 16.87 ANKRD30A 0 genome.wustl.edu 37 10 37430823 37430823 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 37430823 37430823 A G SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.830 p.E277G 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 tier1 - - 67 0 0.00 69 14 16.67 ARF1 0 genome.wustl.edu 37 1 228285822 228285822 + RNA SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 228285822 228285822 C T SNP ARF1 ENST00000470558 human ensembl 74_37 +1 known rna NULL NULL 1.000 - - - no_errors ARF1 HGNC ENSG00000143761 tier1 - - 29 0 0.00 9 14 60.87 ARHGAP5 0 genome.wustl.edu 37 14 32559900 32559900 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 14 32559900 32559900 C T SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known missense c.25 p.R9C 1.000 superfamily_P-loop_NTPase pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 tier1 - - 145 0 0.00 104 27 20.61 ASAP2 0 genome.wustl.edu 37 2 9515045 9515045 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 9515045 9515045 C T SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known missense c.1718 p.T573M 0.993 superfamily_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 tier1 - - 140 0 0.00 105 17 13.93 ATG10 0 genome.wustl.edu 37 5 81474399 81474399 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 5 81474399 81474399 C T SNP ATG10 ENST00000282185 human ensembl 74_37 +1 known missense c.446 p.T149M 0.988 pfam_Autophagy-rel_prot_3 pfam_Autophagy-rel_prot_3 - no_errors ATG10 HGNC ENSG00000152348 tier1 - - 95 0 0.00 93 11 10.58 ATP10B 0 genome.wustl.edu 37 5 160029609 160029609 + Missense_Mutation SNP A A T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 5 160029609 160029609 A T SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known missense c.3338 p.V1113E 1.000 tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 tier1 - - 82 0 0.00 32 18 36.00 ATP4B 0 genome.wustl.edu 37 13 114309158 114309158 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 13 114309158 114309158 G A SNP ATP4B ENST00000335288 human ensembl 74_37 -1 known missense c.212 p.P71L 0.971 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP4B HGNC ENSG00000186009 tier1 - - 61 0 0.00 28 19 40.43 ATP6V0D2 0 genome.wustl.edu 37 8 87111221 87111221 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 87111221 87111221 C T SNP ATP6V0D2 ENST00000285393 human ensembl 74_37 +1 known missense c.14 p.A5V 0.136 pirsf_ATPase_V0-cplx_dsu pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu - no_errors ATP6V0D2 HGNC ENSG00000147614 tier1 - - 139 0 0.00 131 13 9.03 AZI2 0 genome.wustl.edu 37 3 28368376 28368376 + Missense_Mutation SNP T T A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 28368376 28368376 T A SNP AZI2 ENST00000479665 human ensembl 74_37 -1 known missense c.713 p.Q238L 1.000 NULL NULL - no_errors AZI2 HGNC ENSG00000163512 tier1 - - 131 0 0.00 90 11 10.89 BAI3 0 genome.wustl.edu 37 6 69348631 69348631 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 69348631 69348631 T G SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.64 p.F22V 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 - - 133 0 0.00 109 11 9.17 BAI3 0 genome.wustl.edu 37 6 70037721 70037721 + Missense_Mutation SNP C C G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 70037721 70037721 C G SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.2975 p.A992G 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 tier1 - - 89 0 0.00 55 9 14.06 BAZ2B 0 genome.wustl.edu 37 2 160289338 160289338 + Missense_Mutation SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 160289338 160289338 A C SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known missense c.1830 p.D610E 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 tier1 - - 94 0 0.00 60 10 14.29 BNC1 0 genome.wustl.edu 37 15 83935597 83935597 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 83935597 83935597 G A SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known silent c.426 p.Y142 0.046 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 tier1 - - 183 0 0.00 143 26 15.38 C11orf30 0 genome.wustl.edu 37 11 76183702 76183702 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 76183702 76183702 C T SNP C11orf30 ENST00000334736 human ensembl 74_37 +1 known missense c.926 p.T309M 1.000 NULL pfam_ENT_N,pfscan_ENT_N - no_errors C11orf30 HGNC ENSG00000158636 tier1 - - 120 0 0.00 177 16 8.29 C20orf26 0 genome.wustl.edu 37 20 20278996 20278996 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 20 20278996 20278996 C T SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known missense c.3388 p.R1130W 0.998 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 tier1 - - 62 0 0.00 32 37 53.62 C9orf43 0 genome.wustl.edu 37 9 116183431 116183431 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 9 116183431 116183431 G A SNP C9orf43 ENST00000288462 human ensembl 74_37 +1 known missense c.394 p.V132I 0.003 NULL NULL - no_errors C9orf43 HGNC ENSG00000157653 tier1 - - 151 0 0.00 103 20 16.26 CABS1 0 genome.wustl.edu 37 4 71200811 71200811 + Nonsense_Mutation SNP A A T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 71200811 71200811 A T SNP CABS1 ENST00000273936 human ensembl 74_37 +1 known nonsense c.55 p.K19* 0.002 NULL NULL - no_errors CABS1 HGNC ENSG00000145309 tier1 - - 99 0 0.00 65 13 16.67 CACNA1B 0 genome.wustl.edu 37 9 141016021 141016021 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 9 141016021 141016021 C T SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.6593 p.P2198L 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 tier1 - - 53 0 0.00 38 7 15.56 CACNA1H 0 genome.wustl.edu 37 16 1261575 1261575 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 16 1261575 1261575 G A SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.4445 p.R1482Q 0.995 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 tier1 - - 40 0 0.00 24 9 27.27 CADM3 0 genome.wustl.edu 37 1 159163218 159163218 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 159163218 159163218 C T SNP CADM3 ENST00000368124 human ensembl 74_37 +1 known missense c.490 p.P164S 1.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM3 HGNC ENSG00000162706 tier1 - - 106 0 0.00 101 8 7.27 CATSPER2 0 genome.wustl.edu 37 15 43932664 43932664 + Nonsense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 43932664 43932664 C T SNP CATSPER2 ENST00000321596 human ensembl 74_37 -1 known nonsense c.419 p.W140* 0.255 NULL pfam_Ion_trans_dom - no_errors CATSPER2 HGNC ENSG00000166762 tier1 - - 173 0 0.00 121 13 9.70 CBL 0 genome.wustl.edu 37 11 119077233 119077235 + In_Frame_Del DEL CAC CAC - TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 CAC CAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 119077233 119077235 CAC - DEL CBL ENST00000264033 human ensembl 74_37 +1 known in_frame_del c.106_108 p.H39in_frame_del 0.999:1.000:1.000 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBL HGNC ENSG00000110395 tier1 10 0 0.00 4 2 33.33 CCDC144A 0 genome.wustl.edu 37 17 16593937 16593937 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 17 16593937 16593937 G A SNP CCDC144A ENST00000360524 human ensembl 74_37 +1 known missense c.223 p.D75N 0.002 NULL pfam_DUF3496 - no_errors CCDC144A HGNC ENSG00000170160 tier1 - - 248 0 0.00 136 109 44.49 CCDC42 0 genome.wustl.edu 37 17 8644967 8644967 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 17 8644967 8644967 C T SNP CCDC42 ENST00000293845 human ensembl 74_37 -1 known missense c.317 p.R106H 0.980 NULL NULL - no_errors CCDC42 HGNC ENSG00000161973 tier1 - - 68 0 0.00 42 19 31.15 CCDC82 0 genome.wustl.edu 37 11 96086843 96086843 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 96086843 96086843 C T SNP CCDC82 ENST00000278520 human ensembl 74_37 -1 known silent c.1602 p.A534 0.967 NULL NULL - no_errors CCDC82 HGNC ENSG00000149231 tier1 - - 177 0 0.00 138 27 16.36 CD36 0 genome.wustl.edu 37 7 80292468 80292468 + Missense_Mutation SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 7 80292468 80292468 G C SNP CD36 ENST00000309881 human ensembl 74_37 +1 known missense c.592 p.V198L 0.531 pfam_CD36,prints_CD36_antigen pfam_CD36,prints_CD36_antigen,prints_CD36 - no_errors CD36 HGNC ENSG00000135218 tier1 - - 153 0 0.00 118 15 11.28 CDC42BPB 0 genome.wustl.edu 37 14 103430926 103430926 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 14 103430926 103430926 T G SNP CDC42BPB ENST00000361246 human ensembl 74_37 -1 known missense c.2639 p.Q880P 1.000 pfam_Myotonic_dystrophy_kinase_coil pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 tier1 - - 67 0 0.00 42 13 23.64 CDH8 0 genome.wustl.edu 37 16 61935343 61935343 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 16 61935343 61935343 A G SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.287 p.I96T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 tier1 - - 93 0 0.00 82 12 12.77 CEP152 0 genome.wustl.edu 37 15 49090149 49090149 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 49090149 49090149 C T SNP CEP152 ENST00000380950 human ensembl 74_37 -1 known missense c.187 p.G63R 0.000 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 tier1 - - 40 0 0.00 32 5 13.51 CFH 0 genome.wustl.edu 37 1 196643035 196643035 + Missense_Mutation SNP T T A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 196643035 196643035 T A SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.293 p.L98H 0.241 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 tier1 - - 150 0 0.00 106 59 35.54 CHL1 0 genome.wustl.edu 37 3 443365 443365 + Missense_Mutation SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 443365 443365 A C SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.3442 p.T1148P 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 tier1 - - 89 0 0.00 58 8 12.12 CHRNB2 0 genome.wustl.edu 37 1 154544270 154544270 + Missense_Mutation SNP G G T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 154544270 154544270 G T SNP CHRNB2 ENST00000368476 human ensembl 74_37 +1 known missense c.971 p.R324L 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB2 HGNC ENSG00000160716 tier1 - - 86 0 0.00 35 24 40.68 CHRNB3 0 genome.wustl.edu 37 8 42591674 42591674 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 42591674 42591674 C T SNP CHRNB3 ENST00000289957 human ensembl 74_37 +1 known silent c.1290 p.F430 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB3 HGNC ENSG00000147432 tier1 - - 311 0 0.00 165 76 31.54 CITED1 0 genome.wustl.edu 37 X 71522051 71522051 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd X 71522051 71522051 G A SNP CITED1 ENST00000431381 human ensembl 74_37 -1 known missense c.182 p.A61V 0.002 pfam_CITED pfam_CITED - no_errors CITED1 HGNC ENSG00000125931 tier1 - - 15 0 0.00 7 13 65.00 CLEC12A 0 genome.wustl.edu 37 12 10133223 10133223 + Missense_Mutation SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 10133223 10133223 A C SNP CLEC12A ENST00000355690 human ensembl 74_37 +1 known missense c.452 p.K151T 0.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC12A HGNC ENSG00000172322 tier1 - - 155 0 0.00 118 39 24.84 CLIC2 0 genome.wustl.edu 37 X 154508537 154508537 + Missense_Mutation SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd X 154508537 154508537 G C SNP CLIC2 ENST00000369449 human ensembl 74_37 -1 known missense c.483 p.D161E 1.000 superfamily_Glutathione-S-Trfase_C-like,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC2 HGNC ENSG00000155962 tier1 - - 65 0 0.00 30 45 60.00 CNBD1 0 genome.wustl.edu 37 8 88365898 88365898 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 88365898 88365898 T C SNP CNBD1 ENST00000518476 human ensembl 74_37 +1 known missense c.1187 p.L396P 0.229 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 tier1 - - 72 0 0.00 67 18 21.18 CNTN6 0 genome.wustl.edu 37 3 1425012 1425012 + Missense_Mutation SNP A A T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 1425012 1425012 A T SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.2437 p.S813C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 tier1 - - 342 0 0.00 166 94 36.02 COL12A1 0 genome.wustl.edu 37 6 75892916 75892916 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 75892916 75892916 G A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.1741 p.R581C 0.998 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 tier1 - - 118 0 0.00 94 13 12.15 COL22A1 0 genome.wustl.edu 37 8 139606337 139606337 + Missense_Mutation SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 139606337 139606337 C A SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.4538 p.R1513L 0.141 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 tier1 - - 103 0 0.00 95 24 20.17 CORO1B 0 genome.wustl.edu 37 11 67209479 67209479 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 67209479 67209479 G A SNP CORO1B ENST00000341356 human ensembl 74_37 -1 known silent c.282 p.N94 0.513 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1B HGNC ENSG00000172725 tier1 - - 94 0 0.00 126 21 14.29 CRADD 0 genome.wustl.edu 37 12 94243950 94243950 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 94243950 94243950 G A SNP CRADD ENST00000332896 human ensembl 74_37 +1 known missense c.503 p.R168Q 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_CARD,pfam_Death_domain,superfamily_DEATH-like_dom,smart_CARD,smart_Death_domain,pfscan_CARD,pfscan_Death_domain - no_errors CRADD HGNC ENSG00000169372 tier1 - - 132 0 0.00 86 14 14.00 CRYGA 0 genome.wustl.edu 37 2 209028005 209028005 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 209028005 209028005 G A SNP CRYGA ENST00000304502 human ensembl 74_37 -1 known missense c.175 p.R59C 0.370 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGA HGNC ENSG00000168582 tier1 - - 99 0 0.00 172 18 9.47 CSAD 0 genome.wustl.edu 37 12 53564266 53564266 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 53564266 53564266 C T SNP CSAD ENST00000475890 human ensembl 74_37 -1 known missense c.641 p.R214K 0.997 NULL pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors CSAD HGNC ENSG00000139631 tier1 - - 119 0 0.00 85 17 16.67 CSMD1 0 genome.wustl.edu 37 8 3087592 3087592 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 3087592 3087592 A G SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.4318 p.F1440L 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 92 0 0.00 86 7 7.53 CSMD1 0 genome.wustl.edu 37 8 3087703 3087703 + Missense_Mutation SNP G G T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 3087703 3087703 G T SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.4207 p.R1403S 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 tier1 - - 41 0 0.00 33 13 28.26 CSMD3 0 genome.wustl.edu 37 8 114326962 114326962 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 114326962 114326962 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.239 p.G80D 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 tier1 - - 194 0 0.00 245 23 8.58 CTNNA2 0 genome.wustl.edu 37 2 80085199 80085199 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 80085199 80085199 G A SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.461 p.R154H 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 tier1 - - 183 0 0.00 145 14 8.81 CUBN 0 genome.wustl.edu 37 10 16916401 16916401 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 16916401 16916401 C T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.9208 p.V3070I 0.166 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 tier1 rs144314567 - 192 0 0.00 149 89 37.24 CYFIP2 0 genome.wustl.edu 37 5 156768085 156768085 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 5 156768085 156768085 C T SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known missense c.2668 p.R890W 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 tier1 - - 98 0 0.00 77 12 13.48 CYP11B2 0 genome.wustl.edu 37 8 143999195 143999195 + Missense_Mutation SNP G G T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 143999195 143999195 G T SNP CYP11B2 ENST00000323110 human ensembl 74_37 -1 known missense c.62 p.A21E 0.098 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 tier1 - - 234 0 0.00 240 17 6.61 DACH2 0 genome.wustl.edu 37 X 85403712 85403712 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd X 85403712 85403712 T C SNP DACH2 ENST00000373125 human ensembl 74_37 +1 known missense c.88 p.S30P 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 tier1 - - 19 0 0.00 3 25 89.29 DCAF12L1 0 genome.wustl.edu 37 X 125685222 125685222 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd X 125685222 125685222 T G SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known missense c.1370 p.N457T 0.999 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 tier1 - - 109 0 0.00 51 64 55.65 DCC 0 genome.wustl.edu 37 18 50976977 50976977 + Missense_Mutation SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 18 50976977 50976977 G C SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.3337 p.V1113L 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 tier1 - - 92 0 0.00 39 14 26.42 DCC 0 genome.wustl.edu 37 18 51013195 51013195 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 18 51013195 51013195 G A SNP DCC ENST00000442544 human ensembl 74_37 +1 known silent c.3765 p.T1255 0.935 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 tier1 - - 150 0 0.00 111 31 21.68 DMD 0 genome.wustl.edu 37 X 32563331 32563331 + Missense_Mutation SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd X 32563331 32563331 G C SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.2113 p.P705A 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 tier1 - - 59 0 0.00 59 9 13.24 DNAH10 0 genome.wustl.edu 37 12 124352667 124352667 + Splice_Site SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 124352667 124352667 G A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known splice_site c.7165+1 e42+1 1.000 - - - no_errors DNAH10 HGNC ENSG00000197653 tier1 - - 41 0 0.00 31 4 11.43 DNHD1 0 genome.wustl.edu 37 11 6578614 6578616 + In_Frame_Del DEL GAG GAG - TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 GAG GAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 6578614 6578616 GAG - DEL DNHD1 ENST00000254579 human ensembl 74_37 +1 known in_frame_del c.8089_8091 p.E2700in_frame_del 0.006:0.004:0.000 NULL pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,superfamily_P-loop_NTPase,superfamily_t-SNARE - no_errors DNHD1 HGNC ENSG00000179532 tier1 13 0 0.00 4 2 33.33 DNM1P47 0 genome.wustl.edu 37 15 102312241 102312241 + RNA DEL A A - TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 102312241 102312241 A - DEL DNM1P47 ENST00000561463 human ensembl 74_37 +1 known rna NULL NULL 0.004 - - - no_errors DNM1P47 HGNC ENSG00000259660 tier1 8 0 0.00 8 4 33.33 DTX3 0 genome.wustl.edu 37 12 58002361 58002361 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 58002361 58002361 C T SNP DTX3 ENST00000551632 human ensembl 74_37 +1 known missense c.818 p.P273L 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3 HGNC ENSG00000178498 tier1 - - 117 0 0.00 91 21 18.75 E2F5 0 genome.wustl.edu 37 8 86115407 86115407 + Silent SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 86115407 86115407 A G SNP E2F5 ENST00000256117 human ensembl 74_37 +1 known silent c.423 p.E141 0.201 NULL pfam_E2F_TDP - no_errors E2F5 HGNC ENSG00000133740 tier1 - - 59 0 0.00 59 8 11.94 EBF3 0 genome.wustl.edu 37 10 131636204 131636204 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 131636204 131636204 G A SNP EBF3 ENST00000355311 human ensembl 74_37 -1 known missense c.1780 p.P594S 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 tier1 - - 76 0 0.00 54 13 19.40 ELL 0 genome.wustl.edu 37 19 18561591 18561591 + Silent SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 18561591 18561591 C A SNP ELL ENST00000262809 human ensembl 74_37 -1 known silent c.1161 p.R387 0.004 NULL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC ENSG00000105656 tier1 - - 27 0 0.00 9 4 30.77 ENSG00000180574 0 genome.wustl.edu 37 12 10659342 10659342 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 10659342 10659342 G A SNP ENSG00000180574 ENST00000538173 human ensembl 74_37 +1 known missense c.841 p.G281S 1.000 pfam_Transl_elong_EFTu/EF1A_2,superfamily_Transl_B-barrel pfam_EF_GTP-bd_dom,pfam_TIF2_gsu_C,pfam_Transl_elong_EFTu/EF1A_2,superfamily_P-loop_NTPase,superfamily_Transl_B-barrel,superfamily_Transl_elong_EF1A/Init_IF2_C,prints_EF_GTP-bd_dom - no_errors EIF2S3L Uniprot_gn ENSG00000180574 tier1 - - 309 0 0.00 205 88 29.93 ENSG00000225241 0 genome.wustl.edu 37 1 144594116 144594116 + RNA SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 144594116 144594116 G A SNP ENSG00000225241 ENST00000419820 human ensembl 74_37 +1 known rna NULL NULL 0.001 - - - no_errors RP11-640M9.2 Clone_based_vega_gene ENSG00000225241 tier1 rs74679403 - 8 0 0.00 3 3 50.00 ENSG00000268412 0 genome.wustl.edu 37 2 26251082 26251082 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 26251082 26251082 C T SNP ENSG00000268412 ENST00000599234 human ensembl 74_37 -1 novel missense c.400 p.E134K 0.509 NULL pfam_UPF0434/Trm112 - no_errors AC013449.1 Clone_based_ensembl_gene ENSG00000268412 tier1 - - 179 0 0.00 91 32 25.81 ENSG00000269996 0 genome.wustl.edu 37 1 121134091 121134091 + RNA DEL G G - TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 121134091 121134091 G - DEL ENSG00000269996 ENST00000602412 human ensembl 74_37 +1 known rna NULL NULL 0.052 - - - no_errors RP11-343N15.5 Clone_based_vega_gene ENSG00000269996 tier1 10 0 0.00 4 2 33.33 EP400NL 0 genome.wustl.edu 37 12 132589453 132589453 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 132589453 132589453 C T SNP EP400NL ENST00000376625 human ensembl 74_37 +1 known silent c.888 p.G296 0.002 NULL NULL - no_errors EP400NL HGNC ENSG00000185684 tier1 - - 20 0 0.00 6 4 40.00 EPAS1 0 genome.wustl.edu 37 2 46605202 46605204 + In_Frame_Del DEL CAG CAG - TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 46605202 46605204 CAG - DEL EPAS1 ENST00000263734 human ensembl 74_37 +1 known in_frame_del c.1419_1421 p.S477in_frame_del 0.987:0.991:0.994 NULL pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_PAS,superfamily_bHLH_dom,smart_bHLH_dom,smart_PAS,smart_PAC,prints_Nuc_translocat,pfscan_PAS,pfscan_bHLH_dom,tigrfam_PAS - no_errors EPAS1 HGNC ENSG00000116016 tier1 33 0 0.00 24 2 7.69 EPHA6 0 genome.wustl.edu 37 3 96706401 96706401 + Silent SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 96706401 96706401 A C SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known silent c.678 p.S226 0.892 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 tier1 - - 293 0 0.00 170 108 38.57 EPHA7 0 genome.wustl.edu 37 6 94120278 94120278 + Missense_Mutation SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 94120278 94120278 A C SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known missense c.773 p.V258G 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA7 HGNC ENSG00000135333 tier1 - - 127 0 0.00 73 31 29.81 EPS8L2 0 genome.wustl.edu 37 11 726309 726309 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 726309 726309 A G SNP EPS8L2 ENST00000318562 human ensembl 74_37 +1 known missense c.1759 p.M587V 0.998 NULL pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors EPS8L2 HGNC ENSG00000177106 tier1 - - 34 0 0.00 21 8 27.59 ERCC6L 0 genome.wustl.edu 37 X 71427962 71427962 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd X 71427962 71427962 C T SNP ERCC6L ENST00000334463 human ensembl 74_37 -1 known missense c.655 p.E219K 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 tier1 - - 96 0 0.00 53 74 57.81 F8 0 genome.wustl.edu 37 X 154159298 154159298 + Missense_Mutation SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd X 154159298 154159298 A C SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.2767 p.L923V 0.001 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 tier1 - - 70 0 0.00 41 57 58.16 FAIM2 0 genome.wustl.edu 37 12 50295007 50295007 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 50295007 50295007 C T SNP FAIM2 ENST00000320634 human ensembl 74_37 -1 known silent c.117 p.E39 1.000 NULL pfam_Bax_inhibitor_1-related - no_errors FAIM2 HGNC ENSG00000135472 tier1 - - 112 0 0.00 100 11 9.91 FAM155B 0 genome.wustl.edu 37 X 68749674 68749674 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd X 68749674 68749674 C T SNP FAM155B ENST00000252338 human ensembl 74_37 +1 known missense c.1294 p.R432W 1.000 NULL NULL - no_errors FAM155B HGNC ENSG00000130054 tier1 - - 71 0 0.00 37 43 53.09 FANCM 0 genome.wustl.edu 37 14 45645883 45645883 + Missense_Mutation SNP A A T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 14 45645883 45645883 A T SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.3926 p.H1309L 0.001 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 tier1 - - 75 0 0.00 78 29 26.85 FAT3 0 genome.wustl.edu 37 11 92616432 92616432 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 92616432 92616432 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.12810 p.S4270 0.001 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 tier1 - - 247 0 0.00 264 60 18.46 FBXW11 0 genome.wustl.edu 37 5 171305023 171305023 + Silent SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 5 171305023 171305023 A C SNP FBXW11 ENST00000265094 human ensembl 74_37 -1 known silent c.900 p.S300 0.005 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW11 HGNC ENSG00000072803 tier1 - - 71 0 0.00 71 10 12.35 FDX1 0 genome.wustl.edu 37 11 110306593 110306593 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 110306593 110306593 G A SNP FDX1 ENST00000260270 human ensembl 74_37 +1 known missense c.221 p.R74H 0.998 pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,prints_Adrenodoxin - no_errors FDX1 HGNC ENSG00000137714 tier1 - - 78 0 0.00 60 22 26.83 FERMT2 0 genome.wustl.edu 37 14 53327010 53327011 + RNA INS - - G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 14 53327010 53327011 - G INS FERMT2 ENST00000557255 human ensembl 74_37 -1 known rna NULL NULL 0.040:0.009 - - - no_errors FERMT2 HGNC ENSG00000073712 tier1 46 0 0.00 29 5 14.71 FERMT2 0 genome.wustl.edu 37 14 53327012 53327012 + RNA SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 14 53327012 53327012 C A SNP FERMT2 ENST00000557255 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors FERMT2 HGNC ENSG00000073712 tier1 - - 48 0 0.00 31 5 13.89 FGFRL1 0 genome.wustl.edu 37 4 1017851 1017851 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 1017851 1017851 C T SNP FGFRL1 ENST00000264748 human ensembl 74_37 +1 known missense c.680 p.A227V 0.209 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FGFRL1 HGNC ENSG00000127418 tier1 - - 30 0 0.00 17 8 32.00 FLG 0 genome.wustl.edu 37 1 152286119 152286119 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 152286119 152286119 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.1243 p.R415W 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 tier1 rs144799241 - 622 0 0.00 449 154 25.50 FNDC3B 0 genome.wustl.edu 37 3 172061938 172061938 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 172061938 172061938 G A SNP FNDC3B ENST00000336824 human ensembl 74_37 +1 known missense c.2140 p.E714K 0.918 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 tier1 rs141201285 - 230 0 0.00 204 22 9.73 FOLH1B 0 genome.wustl.edu 37 11 89424117 89424117 + RNA SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 89424117 89424117 A C SNP FOLH1B ENST00000525540 human ensembl 74_37 +1 known rna NULL NULL 0.176 - - - no_errors FOLH1B HGNC ENSG00000134612 tier1 - - 85 0 0.00 101 16 13.68 FRAS1 0 genome.wustl.edu 37 4 79229294 79229294 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 79229294 79229294 G A SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.1609 p.V537M 0.954 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 tier1 - - 43 0 0.00 32 7 17.95 FSD2 0 genome.wustl.edu 37 15 83455853 83455853 + Missense_Mutation SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 83455853 83455853 C A SNP FSD2 ENST00000334574 human ensembl 74_37 -1 known missense c.290 p.R97I 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD2 HGNC ENSG00000186628 tier1 - - 172 0 0.00 154 15 8.88 GMEB2 0 genome.wustl.edu 37 20 62223462 62223462 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 20 62223462 62223462 C T SNP GMEB2 ENST00000266068 human ensembl 74_37 -1 known missense c.865 p.G289S 1.000 superfamily_Sig_transdc_His_kin_Hpt_dom pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Sig_transdc_His_kin_Hpt_dom,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB2 HGNC ENSG00000101216 tier1 - - 148 0 0.00 193 11 5.39 GOLGA6L2 0 genome.wustl.edu 37 15 23690543 23690543 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 23690543 23690543 T C SNP GOLGA6L2 ENST00000312015 human ensembl 74_37 -1 known missense c.127 p.R43G 0.039 NULL prints_Tropomyosin - no_errors GOLGA6L2 HGNC ENSG00000174450 tier1 rs2344900 - 16 0 0.00 7 4 36.36 GP6 0 genome.wustl.edu 37 19 55549586 55549586 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 55549586 55549586 C T SNP GP6 ENST00000310373 human ensembl 74_37 -1 known missense c.19 p.A7T 0.000 NULL smart_Ig_sub,smart_Ig_sub2 - no_errors GP6 HGNC ENSG00000088053 tier1 - - 15 0 0.00 17 6 26.09 GPR142 0 genome.wustl.edu 37 17 72368351 72368351 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 17 72368351 72368351 C T SNP GPR142 ENST00000335666 human ensembl 74_37 +1 known missense c.1001 p.S334L 0.972 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR142 HGNC ENSG00000257008 tier1 - - 77 0 0.00 26 20 43.48 GPR179 0 genome.wustl.edu 37 17 36483371 36483371 + Silent SNP G G T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 17 36483371 36483371 G T SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known silent c.6081 p.I2027 0.000 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 tier1 - - 170 0 0.00 84 62 42.47 GPR50 0 genome.wustl.edu 37 X 150349386 150349386 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd X 150349386 150349386 T C SNP GPR50 ENST00000218316 human ensembl 74_37 +1 known missense c.1331 p.V444A 0.693 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 tier1 - - 385 0 0.00 345 61 15.02 GRIP1 0 genome.wustl.edu 37 12 66849287 66849287 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 66849287 66849287 G A SNP GRIP1 ENST00000359742 human ensembl 74_37 -1 known missense c.1256 p.S419F 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 tier1 - - 159 0 0.00 120 44 26.83 GRM6 0 genome.wustl.edu 37 5 178408716 178408716 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 5 178408716 178408716 T C SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known missense c.2576 p.K859R 0.994 pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_6 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 tier1 - - 150 0 0.00 121 13 9.70 HDLBP 0 genome.wustl.edu 37 2 242179184 242179185 + In_Frame_Ins INS - - GTG TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 242179184 242179185 - GTG INS HDLBP ENST00000310931 human ensembl 74_37 -1 known in_frame_ins c.2443_2442 p.814in_frame_insH 1.000:0.998 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 tier1 115 0 0.00 75 11 12.79 HERC1 0 genome.wustl.edu 37 15 63935637 63935637 + Missense_Mutation SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 63935637 63935637 C A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.11297 p.G3766V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 tier1 - - 39 0 0.00 27 13 32.50 HIST1H1E 0 genome.wustl.edu 37 6 26157095 26157095 + Missense_Mutation SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 26157095 26157095 G C SNP HIST1H1E ENST00000304218 human ensembl 74_37 +1 known missense c.477 p.K159N 1.000 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1E HGNC ENSG00000168298 tier1 - - 30 0 0.00 13 5 27.78 HK1 0 genome.wustl.edu 37 10 71142292 71142292 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 71142292 71142292 G A SNP HK1 ENST00000448642 human ensembl 74_37 +1 known missense c.1420 p.D474N 0.999 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK1 HGNC ENSG00000156515 tier1 - - 125 0 0.00 84 16 16.00 HPDL 0 genome.wustl.edu 37 1 45793415 45793415 + Missense_Mutation SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 45793415 45793415 C A SNP HPDL ENST00000334815 human ensembl 74_37 +1 known missense c.595 p.L199M 0.403 pirsf_4OHPhenylPyrv_dOase pirsf_4OHPhenylPyrv_dOase - no_errors HPDL HGNC ENSG00000186603 tier1 - - 96 0 0.00 122 8 6.15 HSPA2 0 genome.wustl.edu 37 14 65008403 65008403 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 14 65008403 65008403 C T SNP HSPA2 ENST00000247207 human ensembl 74_37 +1 known missense c.836 p.S279L 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 61 0 0.00 39 4 9.30 HTR3B 0 genome.wustl.edu 37 11 113803163 113803163 + Missense_Mutation SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 113803163 113803163 A C SNP HTR3B ENST00000260191 human ensembl 74_37 +1 known missense c.521 p.K174T 0.656 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel - no_errors HTR3B HGNC ENSG00000149305 tier1 - - 118 0 0.00 86 23 21.10 HYAL2 0 genome.wustl.edu 37 3 50355686 50355686 + Silent SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 50355686 50355686 G C SNP HYAL2 ENST00000357750 human ensembl 74_37 -1 known silent c.1296 p.G432 1.000 pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL2 HGNC ENSG00000068001 tier1 - - 100 0 0.00 69 9 11.54 HYAL2 0 genome.wustl.edu 37 3 50357644 50357644 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 50357644 50357644 C T SNP HYAL2 ENST00000357750 human ensembl 74_37 -1 known missense c.277 p.G93R 0.000 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL2 HGNC ENSG00000068001 tier1 - - 113 0 0.00 44 41 48.24 IARS 0 genome.wustl.edu 37 9 95009793 95009793 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 9 95009793 95009793 T G SNP IARS ENST00000375643 human ensembl 74_37 -1 known missense c.2657 p.N886T 1.000 superfamily_tRNAsynth_1a_anticodon-bd pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS HGNC ENSG00000196305 tier1 - - 84 0 0.00 41 27 39.71 IFLTD1 0 genome.wustl.edu 37 12 25672806 25672806 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 25672806 25672806 T G SNP IFLTD1 ENST00000458174 human ensembl 74_37 -1 known missense c.1002 p.Q334H 0.000 NULL pfam_Lamin_tail_dom - no_errors IFLTD1 HGNC ENSG00000152936 tier1 - - 115 0 0.00 79 23 22.55 IGSF10 0 genome.wustl.edu 37 3 151165455 151165455 + Nonsense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 151165455 151165455 G A SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known nonsense c.2314 p.R772* 0.001 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 tier1 rs148376549 - 108 0 0.00 56 45 44.55 IL22RA2 0 genome.wustl.edu 37 6 137476154 137476154 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 137476154 137476154 G A SNP IL22RA2 ENST00000296980 human ensembl 74_37 -1 known silent c.396 p.Y132 0.639 superfamily_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IL22RA2 HGNC ENSG00000164485 tier1 - - 219 0 0.00 180 21 10.45 INTS6 0 genome.wustl.edu 37 13 51939972 51939972 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 13 51939972 51939972 T G SNP INTS6 ENST00000311234 human ensembl 74_37 -1 known missense c.2580 p.K860N 0.999 NULL pfam_VWF_A,pfscan_VWF_A - no_errors INTS6 HGNC ENSG00000102786 tier1 - - 37 0 0.00 40 7 14.89 ITGA2B 0 genome.wustl.edu 37 17 42457115 42457115 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 17 42457115 42457115 G A SNP ITGA2B ENST00000262407 human ensembl 74_37 -1 known missense c.1820 p.T607M 0.031 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA2B HGNC ENSG00000005961 tier1 - - 196 0 0.00 98 58 37.18 ITGAM 0 genome.wustl.edu 37 16 31283265 31283265 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 16 31283265 31283265 C T SNP ITGAM ENST00000544665 human ensembl 74_37 +1 known missense c.656 p.T219M 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 tier1 - - 130 0 0.00 87 14 13.86 ITIH5 0 genome.wustl.edu 37 10 7608116 7608116 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 7608116 7608116 C T SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.2404 p.G802S 1.000 pfam_ITI_HC_C pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 tier1 - - 71 0 0.00 62 26 29.55 KIAA0408 0 genome.wustl.edu 37 6 127771272 127771272 + Missense_Mutation SNP C C G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 127771272 127771272 C G SNP KIAA0408 ENST00000483725 human ensembl 74_37 -1 novel missense c.361 p.E121Q 0.819 NULL NULL - no_errors KIAA0408 HGNC ENSG00000189367 tier1 - - 165 0 0.00 99 72 42.11 KIAA1549L 0 genome.wustl.edu 37 11 33565307 33565307 + Missense_Mutation SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 33565307 33565307 G C SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.1307 p.S436T 0.599 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 tier1 - - 149 0 0.00 93 438 82.49 KIAA1804 0 genome.wustl.edu 37 1 233512265 233512265 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 233512265 233512265 A G SNP KIAA1804 ENST00000366624 human ensembl 74_37 +1 known missense c.1916 p.D639G 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MLK4 Uniprot_gn ENSG00000143674 tier1 - - 86 0 0.00 57 14 19.44 KIRREL3 0 genome.wustl.edu 37 11 126301404 126301404 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 126301404 126301404 C T SNP KIRREL3 ENST00000525144 human ensembl 74_37 -1 known missense c.1606 p.V536I 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL3 HGNC ENSG00000149571 tier1 - - 64 0 0.00 28 5 15.15 KLF12 0 genome.wustl.edu 37 13 74387318 74387318 + Silent SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 13 74387318 74387318 C A SNP KLF12 ENST00000377666 human ensembl 74_37 -1 known silent c.777 p.T259 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF12 HGNC ENSG00000118922 tier1 - - 105 0 0.00 88 8 8.33 KLHL7 0 genome.wustl.edu 37 7 23164761 23164761 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 7 23164761 23164761 A G SNP KLHL7 ENST00000339077 human ensembl 74_37 +1 known missense c.412 p.K138E 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL7 HGNC ENSG00000122550 tier1 - - 111 0 0.00 92 15 14.02 LARP4B 0 genome.wustl.edu 37 10 875402 875402 + Nonsense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 875402 875402 G A SNP LARP4B ENST00000316157 human ensembl 74_37 -1 known nonsense c.1048 p.Q350* 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 tier1 - - 80 0 0.00 81 17 17.17 LINC00969 0 genome.wustl.edu 37 3 195410871 195410871 + RNA SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 195410871 195410871 G A SNP LINC00969 ENST00000414625 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors LINC00969 HGNC ENSG00000242086 tier1 - - 11 0 0.00 12 5 29.41 LOC100996870 0 genome.wustl.edu 37 9 66459813 66459813 + RNA SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 9 66459813 66459813 G A SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.049 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 tier1 rs10752517 - 23 0 0.00 21 5 19.23 LOC100996870 0 genome.wustl.edu 37 9 66459862 66459862 + RNA SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 9 66459862 66459862 T C SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.133 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 tier1 - - 38 0 0.00 22 4 15.38 LOC101927806 0 genome.wustl.edu 37 1 17199996 17199997 + RNA INS - - GG TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 17199996 17199997 - GG INS LOC101927806 ENST00000453554 human ensembl 74_37 +1 known rna NULL NULL 0.002:0.002 - - - no_errors U1 RFAM ENSG00000228549 tier1 10 0 0.00 7 4 36.36 LRRK1 0 genome.wustl.edu 37 15 101589894 101589894 + Silent SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 101589894 101589894 A G SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known silent c.3345 p.G1115 0.453 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 tier1 - - 108 0 0.00 91 14 13.33 LRRTM1 0 genome.wustl.edu 37 2 80530256 80530256 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 80530256 80530256 G A SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known missense c.689 p.P230L 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 tier1 - - 234 0 0.00 145 20 12.12 LY6D 0 genome.wustl.edu 37 8 143866833 143866833 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 143866833 143866833 G A SNP LY6D ENST00000301263 human ensembl 74_37 -1 known missense c.191 p.A64V 0.000 pfam_LY6_UPAR,smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LY6D HGNC ENSG00000167656 tier1 - - 78 0 0.00 69 25 26.60 MAGEB18 0 genome.wustl.edu 37 X 26157988 26157988 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd X 26157988 26157988 C T SNP MAGEB18 ENST00000325250 human ensembl 74_37 +1 known missense c.886 p.P296S 0.077 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB18 HGNC ENSG00000176774 tier1 - - 34 0 0.00 11 16 59.26 MAGI1 0 genome.wustl.edu 37 3 65464281 65464281 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 65464281 65464281 T C SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known missense c.743 p.N248S 1.000 smart_GK/Ca_channel_bsu pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 tier1 - - 197 0 0.00 104 70 40.23 MAP4K1 0 genome.wustl.edu 37 19 39088187 39088187 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 39088187 39088187 G A SNP MAP4K1 ENST00000591517 human ensembl 74_37 -1 known missense c.1717 p.R573W 0.996 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP4K1 HGNC ENSG00000104814 tier1 - - 116 0 0.00 85 39 31.45 MDN1 0 genome.wustl.edu 37 6 90403852 90403852 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 90403852 90403852 C T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.9822 p.L3274 0.888 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 tier1 - - 163 0 0.00 112 22 16.42 MGAT5 0 genome.wustl.edu 37 2 135027986 135027986 + Missense_Mutation SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 135027986 135027986 G C SNP MGAT5 ENST00000281923 human ensembl 74_37 +1 known missense c.271 p.D91H 1.000 NULL NULL - no_errors MGAT5 HGNC ENSG00000152127 tier1 - - 114 0 0.00 103 11 9.65 MGAT5 0 genome.wustl.edu 37 2 135027982 135027985 + Frame_Shift_Del DEL ATTA ATTA - TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 ATTA ATTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 135027982 135027985 ATTA 0 DEL MGAT5 ENST00000281923 human ensembl 74_37 +1 known frame_shift_del c.267_270 p.L90fs 0.562:0.571:1.000:1.000 NULL NULL - no_errors MGAT5 HGNC ENSG00000152127 113 0 0.00 105 10 8.70 MLLT6 0 genome.wustl.edu 37 17 36881037 36881037 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 17 36881037 36881037 G A SNP MLLT6 ENST00000325718 human ensembl 74_37 +1 known silent c.3048 p.A1016 0.740 NULL superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT6 HGNC ENSG00000108292 tier1 - - 23 0 0.00 18 6 25.00 MMP12 0 genome.wustl.edu 37 11 102738680 102738680 + RNA SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 102738680 102738680 C T SNP MMP12 ENST00000326227 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MMP12 HGNC ENSG00000110347 tier1 rs201987840 - 31 0 0.00 15 8 34.78 MMP21 0 genome.wustl.edu 37 10 127462501 127462501 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 127462501 127462501 G A SNP MMP21 ENST00000368808 human ensembl 74_37 -1 known missense c.596 p.A199V 0.989 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP21 HGNC ENSG00000154485 tier1 - - 65 0 0.00 51 15 22.39 MROH8 0 genome.wustl.edu 37 20 35738678 35738680 + In_Frame_Del DEL TCT TCT - TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 TCT TCT Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 20 35738678 35738680 TCT - DEL MROH8 ENST00000400441 human ensembl 74_37 -1 known in_frame_del c.2895_2893 p.R965in_frame_del 1.000:1.000:1.000 superfamily_ARM-type_fold superfamily_ARM-type_fold - no_errors MROH8 HGNC ENSG00000101353 tier1 233 0 0.00 362 40 9.95 MT-ND5 0 genome.wustl.edu 37 MT 13757 13757 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd MT 13757 13757 C T SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.1421 p.P474L NULL pfam_NADH_DH_su5_C,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 tier1 - - 57 0 0.00 35 121 77.56 MTHFD1 0 genome.wustl.edu 37 14 64891553 64891553 + Silent SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 14 64891553 64891553 G C SNP MTHFD1 ENST00000216605 human ensembl 74_37 +1 known silent c.759 p.V253 1.000 pfam_THF_DH/CycHdrlase_NAD-bd_dom,prints_THF_DH/CycHdrlase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase - no_errors MTHFD1 HGNC ENSG00000100714 tier1 - - 51 0 0.00 34 5 12.82 MTUS2 0 genome.wustl.edu 37 13 29601027 29601027 + Missense_Mutation SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 13 29601027 29601027 A C SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.2222 p.K741T 1.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 tier1 - - 65 0 0.00 58 12 17.14 MUC4 0 genome.wustl.edu 37 3 195508163 195508163 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 195508163 195508163 T G SNP MUC4 ENST00000463781 human ensembl 74_37 -1 known missense c.10288 p.T3430P 0.001 NULL pfam_Nidogen_extracell_dom,pfam_AMOP,pfam_VWF_type-D,smart_Nidogen_extracell_dom,smart_AMOP,smart_VWF_type-D,smart_EG-like_dom,pfscan_AMOP,pfscan_EG-like_dom - no_errors MUC4 HGNC ENSG00000145113 tier1 rs200073211 - 11 0 0.00 5 4 44.44 MUC5B 0 genome.wustl.edu 37 11 1265151 1265151 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 1265151 1265151 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.7050 p.A2350 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 26 0 0.00 9 11 55.00 MUC5B 0 genome.wustl.edu 37 11 1267665 1267665 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 1267665 1267665 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.9564 p.S3188 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 215 0 0.00 97 65 40.12 MUC5B 0 genome.wustl.edu 37 11 1269786 1269786 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 1269786 1269786 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.11685 p.S3895 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 tier1 - - 154 0 0.00 71 29 29.00 MUC7 0 genome.wustl.edu 37 4 71347381 71347381 + Missense_Mutation SNP C C G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 71347381 71347381 C G SNP MUC7 ENST00000304887 human ensembl 74_37 +1 known missense c.920 p.P307R 0.109 NULL NULL - no_errors MUC7 HGNC ENSG00000171195 tier1 - - 335 0 0.00 195 20 9.26 MYBPC3 0 genome.wustl.edu 37 11 47372950 47372950 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 47372950 47372950 G A SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known silent c.132 p.R44 0.024 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC3 HGNC ENSG00000134571 tier1 - - 27 0 0.00 27 14 34.15 MYOM2 0 genome.wustl.edu 37 8 2092797 2092797 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 2092797 2092797 C T SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known silent c.4290 p.D1430 0.197 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 tier1 - - 111 0 0.00 50 43 45.74 NALCN 0 genome.wustl.edu 37 13 101795569 101795569 + Missense_Mutation SNP C C G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 13 101795569 101795569 C G SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.1980 p.E660D 0.949 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 tier1 - - 73 0 0.00 45 13 22.41 NDST3 0 genome.wustl.edu 37 4 119035974 119035974 + Missense_Mutation SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 119035974 119035974 A C SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known missense c.1083 p.E361D 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 tier1 - - 108 0 0.00 60 8 11.76 NFATC2 0 genome.wustl.edu 37 20 50140551 50140551 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 20 50140551 50140551 T C SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known missense c.229 p.S77G 1.000 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 tier1 - - 165 0 0.00 164 42 20.39 NKX2-3 0 genome.wustl.edu 37 10 101295002 101295002 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 101295002 101295002 C T SNP NKX2-3 ENST00000344586 human ensembl 74_37 +1 known missense c.619 p.R207W 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-3 HGNC ENSG00000119919 tier1 - - 42 0 0.00 33 10 23.26 NLRC3 0 genome.wustl.edu 37 16 3592702 3592702 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 16 3592702 3592702 G A SNP NLRC3 ENST00000448023 human ensembl 74_37 -1 known missense c.3151 p.R1051W 0.996 smart_Leu-rich_rpt_RNase_inh_sub-typ superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 tier1 - - 21 0 0.00 10 8 44.44 NPC1 0 genome.wustl.edu 37 18 21136494 21136494 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 18 21136494 21136494 C T SNP NPC1 ENST00000269228 human ensembl 74_37 -1 known missense c.1039 p.V347I 1.000 tigrfam_NP_C_type pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC ENSG00000141458 tier1 - - 83 0 0.00 103 7 6.31 NPTX2 0 genome.wustl.edu 37 7 98257773 98257773 + Missense_Mutation SNP C C G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 7 98257773 98257773 C G SNP NPTX2 ENST00000265634 human ensembl 74_37 +1 known missense c.1128 p.F376L 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTX2 HGNC ENSG00000106236 tier1 - - 27 0 0.00 27 10 26.32 NRAS 0 genome.wustl.edu 37 1 115251215 115251216 + Frame_Shift_Ins INS - - T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 115251215 115251216 - T INS NRAS ENST00000369535 human ensembl 74_37 -1 known frame_shift_ins c.511_510 p.L170fs 1.000:0.991 superfamily_P-loop_NTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors NRAS HGNC ENSG00000213281 tier1 179 0 0.00 123 67 35.26 NRXN3 0 genome.wustl.edu 37 14 79454401 79454401 + Missense_Mutation SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 14 79454401 79454401 A C SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.3146 p.N1049T 1.000 superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 tier1 - - 98 0 0.00 62 14 18.42 NSUN2 0 genome.wustl.edu 37 5 6604732 6604732 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 5 6604732 6604732 G A SNP NSUN2 ENST00000264670 human ensembl 74_37 -1 known missense c.1804 p.R602W 1.000 NULL pfam_Fmu/NOL1/Nop2p,prints_RCMT,prints_RCMT_NCL1 - no_errors NSUN2 HGNC ENSG00000037474 tier1 - - 112 0 0.00 70 34 32.69 NUP160 0 genome.wustl.edu 37 11 47830054 47830054 + Missense_Mutation SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 47830054 47830054 G C SNP NUP160 ENST00000378460 human ensembl 74_37 -1 known missense c.2269 p.Q757E 1.000 NULL pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 tier1 - - 81 0 0.00 66 17 20.48 NUP214 0 genome.wustl.edu 37 9 134098270 134098270 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 9 134098270 134098270 G A SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known missense c.5858 p.G1953E 1.000 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 tier1 - - 131 0 0.00 72 40 35.71 OOEP-AS1 0 genome.wustl.edu 37 6 74079540 74079540 + RNA SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 74079540 74079540 C T SNP OOEP-AS1 ENST00000445350 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors OOEP-AS1 HGNC ENSG00000231332 tier1 - - 107 0 0.00 60 22 26.51 OR10T2 0 genome.wustl.edu 37 1 158368690 158368690 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 158368690 158368690 G A SNP OR10T2 ENST00000334438 human ensembl 74_37 -1 known silent c.567 p.A189 0.983 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10T2 HGNC ENSG00000186306 tier1 - - 68 0 0.00 62 10 13.89 OR11L1 0 genome.wustl.edu 37 1 248004834 248004834 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 248004834 248004834 C T SNP OR11L1 ENST00000355784 human ensembl 74_37 -1 known missense c.365 p.R122H 0.996 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11L1 HGNC ENSG00000197591 tier1 - - 70 0 0.00 53 5 8.62 OR2T8 0 genome.wustl.edu 37 1 248084629 248084629 + Missense_Mutation SNP A A T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 248084629 248084629 A T SNP OR2T8 ENST00000319968 human ensembl 74_37 +1 known missense c.310 p.T104S 0.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2T8 HGNC ENSG00000177462 tier1 rs201244365 - 17 0 0.00 12 5 27.78 OR52B2 0 genome.wustl.edu 37 11 6190619 6190619 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 6190619 6190619 T G SNP OR52B2 ENST00000530810 human ensembl 74_37 -1 known missense c.938 p.K313T 0.226 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52B2 HGNC ENSG00000255307 tier1 - - 112 0 0.00 77 13 14.44 OR6N1 0 genome.wustl.edu 37 1 158736313 158736313 + Silent SNP G G T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 158736313 158736313 G T SNP OR6N1 ENST00000335094 human ensembl 74_37 -1 known silent c.160 p.R54 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N1 HGNC ENSG00000197403 tier1 - - 106 0 0.00 64 29 31.18 OR8B2 0 genome.wustl.edu 37 11 124252389 124252389 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 124252389 124252389 A G SNP OR8B2 ENST00000375013 human ensembl 74_37 -1 known missense c.851 p.L284P 0.489 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B2 HGNC ENSG00000204293 tier1 - - 166 0 0.00 148 51 25.63 PABPC3 0 genome.wustl.edu 37 13 25670410 25670410 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 13 25670410 25670410 C T SNP PABPC3 ENST00000281589 human ensembl 74_37 +1 known missense c.74 p.A25V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 tier1 - - 159 0 0.00 84 46 35.11 PAPPA2 0 genome.wustl.edu 37 1 176564058 176564058 + Missense_Mutation SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 176564058 176564058 C A SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.1318 p.H440N 0.689 superfamily_ConA-like_lec_gl_sf pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 tier1 - - 181 0 0.00 99 40 28.57 PCDH9 0 genome.wustl.edu 37 13 67801206 67801206 + Missense_Mutation SNP C C G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 13 67801206 67801206 C G SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.1367 p.R456T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 tier1 - - 113 0 0.00 84 24 22.22 PCDHA10 0 genome.wustl.edu 37 5 140236619 140236619 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 5 140236619 140236619 T C SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.986 p.M329T 0.184 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 tier1 - - 161 0 0.00 96 64 40.00 PCDHB4 0 genome.wustl.edu 37 5 140503423 140503423 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 5 140503423 140503423 G A SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known missense c.1843 p.G615S 0.007 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 tier1 - - 189 0 0.00 121 75 38.27 PCNX 0 genome.wustl.edu 37 14 71444290 71444290 + Missense_Mutation SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 14 71444290 71444290 C A SNP PCNX ENST00000304743 human ensembl 74_37 +1 known missense c.1236 p.S412R 0.991 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 tier1 - - 130 0 0.00 88 12 12.00 PDYN 0 genome.wustl.edu 37 20 1961099 1961099 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 20 1961099 1961099 C T SNP PDYN ENST00000217305 human ensembl 74_37 -1 known missense c.635 p.R212Q 1.000 prints_Proenkphlin_B pfam_Opioid_neupept,prints_Proenkphlin_B,prints_Opioid_neupept - no_errors PDYN HGNC ENSG00000101327 tier1 rs138498390 - 255 0 0.00 242 50 17.12 PEG3 0 genome.wustl.edu 37 19 57326025 57326025 + Missense_Mutation SNP G G T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 57326025 57326025 G T SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.3785 p.A1262D 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 77 0 0.00 53 13 19.70 PEG3 0 genome.wustl.edu 37 19 57327776 57327776 + Silent SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 57327776 57327776 A G SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known silent c.2034 p.T678 0.240 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 tier1 - - 213 0 0.00 170 18 9.57 PF4 0 genome.wustl.edu 37 4 74846961 74846961 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 74846961 74846961 G A SNP PF4 ENST00000296029 human ensembl 74_37 -1 known missense c.266 p.P89L 0.001 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors PF4 HGNC ENSG00000163737 tier1 - - 89 0 0.00 55 16 22.54 PHLPP2 0 genome.wustl.edu 37 16 71736549 71736549 + Nonsense_Mutation SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 16 71736549 71736549 C A SNP PHLPP2 ENST00000356272 human ensembl 74_37 -1 known nonsense c.370 p.E124* 1.000 NULL pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom - no_errors PHLPP2 HGNC ENSG00000040199 tier1 - - 154 0 0.00 90 23 20.00 PLEKHM2 0 genome.wustl.edu 37 1 16060480 16060480 + RNA SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 16060480 16060480 C T SNP PLEKHM2 ENST00000477849 human ensembl 74_37 +1 known rna NULL NULL 0.000 - - - no_errors PLEKHM2 HGNC ENSG00000116786 tier1 - - 15 0 0.00 19 12 38.71 PLK3 0 genome.wustl.edu 37 1 45270790 45270791 + RNA INS - - AAAG TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 45270790 45270791 - AAAG INS PLK3 ENST00000461769 human ensembl 74_37 +1 known rna NULL NULL 0.005:0.008 - - - no_errors PLK3 HGNC ENSG00000173846 tier1 14 0 0.00 6 4 40.00 PNPLA4 0 genome.wustl.edu 37 X 7880119 7880119 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd X 7880119 7880119 T G SNP PNPLA4 ENST00000381042 human ensembl 74_37 -1 known missense c.427 p.S143R 1.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA4 HGNC ENSG00000006757 tier1 - - 70 0 0.00 92 24 20.69 POLH 0 genome.wustl.edu 37 6 43582081 43582081 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 43582081 43582081 G A SNP POLH ENST00000372236 human ensembl 74_37 +1 known silent c.1929 p.P643 0.034 pirsf_DNA_pol_eta pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pirsf_DNA_pol_eta,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLH HGNC ENSG00000170734 tier1 - - 317 0 0.00 254 41 13.85 PPFIA2 0 genome.wustl.edu 37 12 82147836 82147836 + Missense_Mutation SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 82147836 82147836 G C SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.165 p.S55R 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 tier1 - - 45 0 0.00 41 14 25.45 PPP1R11 0 genome.wustl.edu 37 6 30036476 30036479 + Splice_Site DEL GTGA GTGA - TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 GTGA GTGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 30036476 30036479 GTGA - DEL PPP1R11 ENST00000376772 human ensembl 74_37 +1 known splice_site_del c.178+1_178+1 e2+1 1.000:1.000:1.000:1.000 - - - no_errors PPP1R11 HGNC ENSG00000204619 tier1 71 0 0.00 69 10 12.66 PPP2R3A 0 genome.wustl.edu 37 3 135721796 135721796 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 135721796 135721796 A G SNP PPP2R3A ENST00000264977 human ensembl 74_37 +1 known missense c.1456 p.K486E 0.003 NULL pfscan_EF_hand_dom - no_errors PPP2R3A HGNC ENSG00000073711 tier1 - - 106 0 0.00 114 17 12.98 PRAMEF6 0 genome.wustl.edu 37 1 13001384 13001384 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 13001384 13001384 A G SNP PRAMEF6 ENST00000355096 human ensembl 74_37 -1 known missense c.299 p.L100P 0.007 NULL NULL - no_errors PRAMEF6 HGNC ENSG00000232423 tier1 - - 241 0 0.00 270 35 11.48 PRDM16 0 genome.wustl.edu 37 1 3322163 3322163 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 3322163 3322163 C T SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known silent c.1137 p.S379 0.066 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 tier1 - - 168 0 0.00 156 54 25.71 PRKCQ 0 genome.wustl.edu 37 10 6521004 6521004 + Missense_Mutation SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 6521004 6521004 C A SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known missense c.1303 p.A435S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 tier1 - - 98 0 0.00 71 20 21.98 PROS1 0 genome.wustl.edu 37 3 93595984 93595984 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 93595984 93595984 T C SNP PROS1 ENST00000394236 human ensembl 74_37 -1 known missense c.1696 p.S566G 0.005 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors PROS1 HGNC ENSG00000184500 tier1 - - 74 0 0.00 52 51 49.51 PRRX1 0 genome.wustl.edu 37 1 170688908 170688908 + Nonsense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 170688908 170688908 C T SNP PRRX1 ENST00000239461 human ensembl 74_37 +1 known nonsense c.283 p.R95* 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PRRX1 HGNC ENSG00000116132 tier1 - - 74 0 0.00 37 30 44.78 PSMB11 0 genome.wustl.edu 37 14 23512058 23512058 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 14 23512058 23512058 C T SNP PSMB11 ENST00000408907 human ensembl 74_37 +1 known silent c.624 p.A208 0.045 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB11 HGNC ENSG00000222028 tier1 - - 69 0 0.00 69 5 6.76 PSMB9 0 genome.wustl.edu 37 6 32825114 32825116 + In_Frame_Del DEL CAG CAG - TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 32825114 32825116 CAG - DEL PSMB9 ENST00000374859 human ensembl 74_37 +1 known in_frame_del c.203_205 p.A70in_frame_del 0.984:0.049:0.995 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB9 HGNC ENSG00000240065 tier1 107 0 0.00 66 9 12.00 PTCHD2 0 genome.wustl.edu 37 1 11579855 11579855 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 11579855 11579855 C T SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known silent c.2118 p.R706 0.997 pfam_Patched pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 tier1 - - 206 0 0.00 199 49 19.76 PTPN11 0 genome.wustl.edu 37 12 112892433 112892433 + Nonsense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 112892433 112892433 T G SNP PTPN11 ENST00000351677 human ensembl 74_37 +1 known nonsense c.591 p.Y197* 1.000 pfam_SH2,smart_SH2,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,prints_SH2 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_SH2,smart_SH2,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-6/11,pfscan_SH2,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_SH2 - no_errors PTPN11 HGNC ENSG00000179295 tier1 rs76982592 - 67 0 0.00 96 9 8.57 PTPN13 0 genome.wustl.edu 37 4 87684044 87684044 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 87684044 87684044 C T SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known missense c.3718 p.R1240W 0.985 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 tier1 - - 119 0 0.00 73 5 6.41 PTPRS 0 genome.wustl.edu 37 19 5223252 5223252 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 5223252 5223252 G A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.2554 p.R852C 0.954 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 tier1 - - 10 0 0.00 11 6 35.29 PWP1 0 genome.wustl.edu 37 12 108082531 108082531 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 108082531 108082531 G A SNP PWP1 ENST00000412830 human ensembl 74_37 +1 known missense c.271 p.E91K 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP1 HGNC ENSG00000136045 tier1 - - 49 0 0.00 53 15 22.06 PZP 0 genome.wustl.edu 37 12 9307391 9307391 + Missense_Mutation SNP C C G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 9307391 9307391 C G SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.3595 p.V1199L 0.000 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 tier1 - - 78 0 0.00 59 16 21.33 QRFPR 0 genome.wustl.edu 37 4 122301574 122301574 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 122301574 122301574 G A SNP QRFPR ENST00000394427 human ensembl 74_37 -1 known missense c.229 p.R77C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors QRFPR HGNC ENSG00000186867 tier1 - - 134 0 0.00 76 21 21.65 RASGRP4 0 genome.wustl.edu 37 19 38905604 38905604 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 38905604 38905604 C T SNP RASGRP4 ENST00000587738 human ensembl 74_37 -1 known missense c.1114 p.G372S 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP4 HGNC ENSG00000171777 tier1 - - 45 0 0.00 26 8 23.53 SAP130 0 genome.wustl.edu 37 2 128712790 128712790 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 128712790 128712790 G A SNP SAP130 ENST00000357702 human ensembl 74_37 -1 known missense c.2270 p.P757L 0.993 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 tier1 rs199999073 - 178 0 0.00 109 21 16.15 SCAMP5 0 genome.wustl.edu 37 15 75308941 75308941 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 75308941 75308941 C T SNP SCAMP5 ENST00000562212 human ensembl 74_37 +1 known silent c.144 p.S48 1.000 pfam_SCAMP pfam_SCAMP - no_errors SCAMP5 HGNC ENSG00000198794 tier1 - - 120 0 0.00 95 17 15.18 SCAND3 0 genome.wustl.edu 37 6 28542681 28542681 + Missense_Mutation SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 28542681 28542681 A C SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.1801 p.L601V 0.989 NULL pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 tier1 - - 54 0 0.00 30 24 44.44 SCARF1 0 genome.wustl.edu 37 17 1538829 1538829 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 17 1538829 1538829 C T SNP SCARF1 ENST00000571272 human ensembl 74_37 -1 known missense c.1679 p.R560H 0.547 NULL pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 tier1 - - 151 0 0.00 109 14 11.38 SCN7A 0 genome.wustl.edu 37 2 167301492 167301492 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 167301492 167301492 T G SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known missense c.1406 p.K469T 0.023 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 tier1 - - 36 0 0.00 29 9 23.68 SEC24A 0 genome.wustl.edu 37 5 134010343 134010343 + Nonsense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 5 134010343 134010343 C T SNP SEC24A ENST00000398844 human ensembl 74_37 +1 known nonsense c.856 p.R286* 0.991 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24A HGNC ENSG00000113615 tier1 - - 119 0 0.00 99 9 8.26 SELL 0 genome.wustl.edu 37 1 169672428 169672428 + Missense_Mutation SNP C C G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 169672428 169672428 C G SNP SELL ENST00000236147 human ensembl 74_37 -1 known missense c.959 p.G320A 0.992 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_Sushi_SCR_CCP pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELL HGNC ENSG00000188404 tier1 - - 35 0 0.00 58 9 13.43 SFTPA1 0 genome.wustl.edu 37 10 81371633 81371633 + Missense_Mutation SNP G G T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 81371633 81371633 G T SNP SFTPA1 ENST00000419470 human ensembl 74_37 +1 known missense c.97 p.A33S 0.000 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors SFTPA1 HGNC ENSG00000122852 tier1 - - 310 0 0.00 194 47 19.34 SLC18A3 0 genome.wustl.edu 37 10 50820023 50820023 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 50820023 50820023 C T SNP SLC18A3 ENST00000374115 human ensembl 74_37 +1 known missense c.1237 p.H413Y 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A3 HGNC ENSG00000187714 tier1 - - 77 0 0.00 52 11 17.46 SLC24A5 0 genome.wustl.edu 37 15 48429130 48429130 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 48429130 48429130 A G SNP SLC24A5 ENST00000341459 human ensembl 74_37 +1 known missense c.841 p.S281G 1.000 tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A5 HGNC ENSG00000188467 tier1 - - 158 0 0.00 108 24 18.18 SLC25A21 0 genome.wustl.edu 37 14 37180603 37180603 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 14 37180603 37180603 T C SNP SLC25A21 ENST00000331299 human ensembl 74_37 -1 known missense c.523 p.T175A 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A21 HGNC ENSG00000183032 tier1 - - 96 0 0.00 76 13 14.61 SLC39A12 0 genome.wustl.edu 37 10 18250551 18250551 + Silent SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 18250551 18250551 T C SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known silent c.303 p.N101 0.115 NULL pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 tier1 - - 135 0 0.00 87 66 43.14 SLC44A2 0 genome.wustl.edu 37 19 10747210 10747210 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 10747210 10747210 C T SNP SLC44A2 ENST00000335757 human ensembl 74_37 +1 known missense c.1445 p.P482L 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A2 HGNC ENSG00000129353 tier1 - - 115 0 0.00 72 26 26.53 SLC5A5 0 genome.wustl.edu 37 19 18001748 18001748 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 18001748 18001748 C T SNP SLC5A5 ENST00000222248 human ensembl 74_37 +1 known missense c.1705 p.R569W 0.003 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A5 HGNC ENSG00000105641 tier1 rs201835225 - 256 0 0.00 142 69 32.70 SMAD1 0 genome.wustl.edu 37 4 146468031 146468031 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 146468031 146468031 A G SNP SMAD1 ENST00000302085 human ensembl 74_37 +1 known missense c.952 p.N318D 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD1 HGNC ENSG00000170365 tier1 - - 124 0 0.00 111 8 6.72 SOGA1 0 genome.wustl.edu 37 20 35444681 35444681 + Missense_Mutation SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 20 35444681 35444681 C A SNP SOGA1 ENST00000237536 human ensembl 74_37 -1 known missense c.1164 p.L388F 1.000 pfam_SOGA pfam_SOGA - no_errors SOGA1 HGNC ENSG00000149639 tier1 - - 123 0 0.00 88 77 46.67 SORCS2 0 genome.wustl.edu 37 4 7728538 7728538 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 7728538 7728538 C T SNP SORCS2 ENST00000507866 human ensembl 74_37 +1 known missense c.2777 p.T926M 0.876 superfamily_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC ENSG00000184985 tier1 - - 185 0 0.00 84 38 31.15 SPEG 0 genome.wustl.edu 37 2 220308750 220308750 + Splice_Site SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 220308750 220308750 A C SNP SPEG ENST00000420132 human ensembl 74_37 +1 known splice_site c.162-2 e3-2 1.000 - - - no_errors SPEG HGNC ENSG00000072195 tier1 - - 51 0 0.00 30 5 14.29 SPEG 0 genome.wustl.edu 37 2 220309612 220309612 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 220309612 220309612 G A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.544 p.E182K 0.998 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 tier1 - - 191 0 0.00 129 33 20.37 SPON2 0 genome.wustl.edu 37 4 1164265 1164265 + Missense_Mutation SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 1164265 1164265 G C SNP SPON2 ENST00000290902 human ensembl 74_37 -1 known missense c.736 p.Q246E 0.047 NULL pfam_Spondin_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Spondin_N,pfscan_Thrombospondin_1_rpt - no_errors SPON2 HGNC ENSG00000159674 tier1 - - 174 0 0.00 123 43 25.90 ST6GAL1 0 genome.wustl.edu 37 3 186761057 186761057 + Nonsense_Mutation SNP C C G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 186761057 186761057 C G SNP ST6GAL1 ENST00000169298 human ensembl 74_37 +1 known nonsense c.566 p.S189* 0.984 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GAL1 HGNC ENSG00000073849 tier1 - - 255 0 0.00 210 44 17.25 STEAP2 0 genome.wustl.edu 37 7 89856419 89856419 + Silent SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 7 89856419 89856419 T C SNP STEAP2 ENST00000287908 human ensembl 74_37 +1 known silent c.627 p.F209 1.000 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP2 HGNC ENSG00000157214 tier1 - - 144 0 0.00 107 21 16.28 TAF6L 0 genome.wustl.edu 37 11 62549652 62549652 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 62549652 62549652 G A SNP TAF6L ENST00000294168 human ensembl 74_37 +1 known missense c.674 p.R225H 1.000 NULL pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd - no_errors TAF6L HGNC ENSG00000162227 tier1 rs138817605 - 180 0 0.00 155 28 15.30 TANC2 0 genome.wustl.edu 37 17 61497971 61497971 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 17 61497971 61497971 G A SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known missense c.4628 p.R1543Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 tier1 - - 54 0 0.00 21 24 53.33 TBC1D15 0 genome.wustl.edu 37 12 72266761 72266761 + Missense_Mutation SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 72266761 72266761 C A SNP TBC1D15 ENST00000550746 human ensembl 74_37 +1 known missense c.182 p.S61Y 1.000 pfam_DUF3548 pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D15 HGNC ENSG00000121749 tier1 - - 178 0 0.00 186 25 11.79 TBC1D32 0 genome.wustl.edu 37 6 121563367 121563367 + Nonsense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 121563367 121563367 G A SNP TBC1D32 ENST00000275159 human ensembl 74_37 -1 putative nonsense c.2137 p.R713* 0.800 NULL superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D32 HGNC ENSG00000146350 tier1 - - 95 0 0.00 64 15 18.99 TBC1D32 0 genome.wustl.edu 37 6 121563368 121563368 + Missense_Mutation SNP A A T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 121563368 121563368 A T SNP TBC1D32 ENST00000275159 human ensembl 74_37 -1 putative missense c.2136 p.N712K 0.813 NULL superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D32 HGNC ENSG00000146350 tier1 - - 97 0 0.00 63 15 19.23 TCERG1L 0 genome.wustl.edu 37 10 133106633 133106633 + Missense_Mutation SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 133106633 133106633 C A SNP TCERG1L ENST00000368642 human ensembl 74_37 -1 known missense c.511 p.A171S 1.000 NULL pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom - no_errors TCERG1L HGNC ENSG00000176769 tier1 - - 83 0 0.00 55 8 12.70 TECTA 0 genome.wustl.edu 37 11 120996400 120996400 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 120996400 120996400 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known silent c.1593 p.D531 0.060 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 tier1 - - 308 0 0.00 201 66 24.63 TJP1 0 genome.wustl.edu 37 15 30010507 30010507 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 30010507 30010507 T G SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known missense c.3839 p.E1280A 1.000 NULL pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 tier1 - - 113 0 0.00 76 10 11.63 TKTL2 0 genome.wustl.edu 37 4 164394749 164394749 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 164394749 164394749 C T SNP TKTL2 ENST00000280605 human ensembl 74_37 -1 known silent c.138 p.A46 0.133 pfam_Transketolase_N pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC ENSG00000151005 tier1 - - 63 0 0.00 42 8 16.00 TM9SF3 0 genome.wustl.edu 37 10 98287046 98287046 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 98287046 98287046 C T SNP TM9SF3 ENST00000371142 human ensembl 74_37 -1 known silent c.1626 p.K542 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 tier1 - - 47 0 0.00 38 11 22.45 TMEM26 0 genome.wustl.edu 37 10 63188734 63188734 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 63188734 63188734 C T SNP TMEM26 ENST00000399298 human ensembl 74_37 -1 known silent c.555 p.A185 0.167 pfam_Transmembrane_26 pfam_Transmembrane_26 - no_errors TMEM26 HGNC ENSG00000196932 tier1 - - 97 0 0.00 67 23 25.56 TMTC1 0 genome.wustl.edu 37 12 29920871 29920871 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 29920871 29920871 G A SNP TMTC1 ENST00000256062 human ensembl 74_37 -1 known missense c.116 p.T39M 0.978 NULL pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 tier1 - - 99 0 0.00 97 8 7.62 TNFAIP8 0 genome.wustl.edu 37 5 118728940 118728940 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 5 118728940 118728940 G A SNP TNFAIP8 ENST00000504771 human ensembl 74_37 +1 known missense c.461 p.R154Q 1.000 pfam_DUF758 pfam_DUF758 - no_errors TNFAIP8 HGNC ENSG00000145779 tier1 - - 165 0 0.00 92 61 39.87 TNFRSF19 0 genome.wustl.edu 37 13 24234513 24234513 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 13 24234513 24234513 G A SNP TNFRSF19 ENST00000382258 human ensembl 74_37 +1 known missense c.620 p.R207Q 1.000 prints_TNFR_19 smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19 - no_errors TNFRSF19 HGNC ENSG00000127863 tier1 - - 153 0 0.00 127 18 12.41 TNIP3 0 genome.wustl.edu 37 4 122075740 122075740 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 122075740 122075740 T G SNP TNIP3 ENST00000057513 human ensembl 74_37 -1 known missense c.458 p.E153A 0.996 NULL NULL - no_errors TNIP3 HGNC ENSG00000050730 tier1 - - 127 0 0.00 82 20 19.42 TNR 0 genome.wustl.edu 37 1 175365679 175365679 + Splice_Site SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 175365679 175365679 C T SNP TNR ENST00000263525 human ensembl 74_37 -1 known splice_site c.1240+1 e3+1 1.000 - - - no_errors TNR HGNC ENSG00000116147 tier1 - - 79 0 0.00 80 9 10.11 TP53BP1 0 genome.wustl.edu 37 15 43707879 43707879 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 43707879 43707879 C T SNP TP53BP1 ENST00000382044 human ensembl 74_37 -1 known missense c.5002 p.V1668I 0.180 smart_BRCT_dom pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 tier1 - - 245 0 0.00 136 51 27.13 TRHDE 0 genome.wustl.edu 37 12 73046128 73046128 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 73046128 73046128 T C SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.2567 p.V856A 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 tier1 - - 120 0 0.00 95 23 19.49 TRPC4AP 0 genome.wustl.edu 37 20 33637793 33637793 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 20 33637793 33637793 T C SNP TRPC4AP ENST00000252015 human ensembl 74_37 -1 known missense c.533 p.E178G 1.000 NULL pfam_DUF3689 - no_errors TRPC4AP HGNC ENSG00000100991 tier1 - - 91 0 0.00 129 40 23.67 TRPV3 0 genome.wustl.edu 37 17 3436156 3436156 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 17 3436156 3436156 G A SNP TRPV3 ENST00000301365 human ensembl 74_37 -1 known missense c.860 p.T287M 0.998 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel - no_errors TRPV3 HGNC ENSG00000167723 tier1 rs200272068 - 85 0 0.00 34 25 42.37 TSC2 0 genome.wustl.edu 37 16 2106756 2106756 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 16 2106756 2106756 G A SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known missense c.760 p.E254K 1.000 pfam_Tuberin_N,superfamily_ARM-type_fold pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 tier1 rs45517126 - 214 0 0.00 128 51 28.49 TSHZ2 0 genome.wustl.edu 37 20 51872386 51872386 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 20 51872386 51872386 G A SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known missense c.2389 p.D797N 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 tier1 - - 203 0 0.00 224 48 17.65 TSPYL5 0 genome.wustl.edu 37 8 98289633 98289633 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 98289633 98289633 T C SNP TSPYL5 ENST00000322128 human ensembl 74_37 -1 known missense c.440 p.K147R 0.975 NULL pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 tier1 - - 144 0 0.00 152 15 8.98 TTF2 0 genome.wustl.edu 37 1 117626657 117626657 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 117626657 117626657 T C SNP TTF2 ENST00000369466 human ensembl 74_37 +1 known missense c.1921 p.S641P 0.999 pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 tier1 - - 185 0 0.00 174 16 8.42 TTN 0 genome.wustl.edu 37 2 179399663 179399663 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 179399663 179399663 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.93975 p.E31325 0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 66 0 0.00 34 28 45.16 TTN 0 genome.wustl.edu 37 2 179409019 179409019 + Missense_Mutation SNP C C G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 179409019 179409019 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.88233 p.Q29411H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 87 0 0.00 43 26 37.68 TTN 0 genome.wustl.edu 37 2 179482952 179482952 + Missense_Mutation SNP C C G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 179482952 179482952 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.39529 p.E13177Q 1.000 superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 tier1 - - 212 0 0.00 196 36 15.52 TYRP1 0 genome.wustl.edu 37 9 12709255 12709256 + RNA DEL TG TG - TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 TG TG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 9 12709255 12709256 TG - DEL TYRP1 ENST00000381142 human ensembl 74_37 +1 known rna NULL NULL 0.006:0.006 - - - no_errors TYRP1 HGNC ENSG00000107165 tier1 38 0 0.00 22 13 37.14 TYW5 0 genome.wustl.edu 37 2 200797906 200797906 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 200797906 200797906 T G SNP TYW5 ENST00000354611 human ensembl 74_37 -1 known missense c.832 p.I278L 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors TYW5 HGNC ENSG00000162971 tier1 - - 198 0 0.00 256 28 9.86 UCKL1 0 genome.wustl.edu 37 20 62571777 62571777 + Missense_Mutation SNP G G T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 20 62571777 62571777 G T SNP UCKL1 ENST00000354216 human ensembl 74_37 -1 known missense c.1364 p.T455N 1.000 NULL pfam_PRK/URK,pfam_CPT,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC ENSG00000198276 56 0 0.00 64 5 7.25 UHRF1BP1L 0 genome.wustl.edu 37 12 100452225 100452225 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 100452225 100452225 T C SNP UHRF1BP1L ENST00000279907 human ensembl 74_37 -1 known missense c.2830 p.K944E 0.904 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 71 0 0.00 77 5 6.02 USP53 0 genome.wustl.edu 37 4 120213587 120213587 + Missense_Mutation SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 120213587 120213587 G C SNP USP53 ENST00000274030 human ensembl 74_37 +1 known missense c.2443 p.D815H 0.009 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP53 HGNC ENSG00000145390 tier1 - - 109 0 0.00 48 6 11.11 VPS51 0 genome.wustl.edu 37 11 64875340 64875340 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 64875340 64875340 G A SNP VPS51 ENST00000279281 human ensembl 74_37 +1 known missense c.571 p.V191M 0.963 pfam_COG8,pfam_Vacuolar_sorting-assoc_54,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom pfam_COG8,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom - no_errors VPS51 HGNC ENSG00000149823 11 0 0.00 12 4 25.00 VSIG2 0 genome.wustl.edu 37 11 124618613 124618613 + Silent SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 124618613 124618613 G C SNP VSIG2 ENST00000326621 human ensembl 74_37 -1 known silent c.633 p.S211 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG2 HGNC ENSG00000019102 tier1 - - 74 0 0.00 58 14 19.44 WDFY3 0 genome.wustl.edu 37 4 85612843 85612843 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 85612843 85612843 T C SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.9145 p.T3049A 1.000 superfamily_WD40_repeat_dom pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 tier1 - - 121 0 0.00 103 12 10.43 WDR63 0 genome.wustl.edu 37 1 85555822 85555822 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 85555822 85555822 C T SNP WDR63 ENST00000294664 human ensembl 74_37 +1 known missense c.764 p.T255M 0.114 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC ENSG00000162643 tier1 rs149091067 - 108 0 0.00 89 10 10.10 WISP1 0 genome.wustl.edu 37 8 134233067 134233067 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 134233067 134233067 G A SNP WISP1 ENST00000250160 human ensembl 74_37 +1 known missense c.593 p.R198H 0.682 pirsf_IGFBP_CNN pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 tier1 rs34782842 - 67 0 0.00 72 24 25.00 XDH 0 genome.wustl.edu 37 2 31625932 31625932 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 31625932 31625932 C T SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.179 p.R60H 0.000 pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 tier1 - - 181 0 0.00 115 18 13.53 XRCC2 0 genome.wustl.edu 37 7 152345889 152345889 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 7 152345889 152345889 G A SNP XRCC2 ENST00000359321 human ensembl 74_37 -1 known silent c.681 p.L227 0.990 superfamily_P-loop_NTPase pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors XRCC2 HGNC ENSG00000196584 tier1 - - 189 0 0.00 136 36 20.93 ZBTB46 0 genome.wustl.edu 37 20 62421951 62421951 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 20 62421951 62421951 G A SNP ZBTB46 ENST00000245663 human ensembl 74_37 -1 known missense c.160 p.R54C 1.000 pfam_BTB_POZ,pfam_DUF3342,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pfscan_BTB/POZ-like pfam_BTB_POZ,pfam_DUF3342,pfam_Znf_C2H2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2 - no_errors ZBTB46 HGNC ENSG00000130584 tier1 - - 92 0 0.00 128 9 6.57 ZC3H8 0 genome.wustl.edu 37 2 113012503 113012503 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 113012503 113012503 G A SNP ZC3H8 ENST00000272570 human ensembl 74_37 -1 known missense c.56 p.A19V 0.015 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H8 HGNC ENSG00000144161 tier1 - - 47 0 0.00 42 22 34.38 ZDHHC14 0 genome.wustl.edu 37 6 158093811 158093811 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 158093811 158093811 C T SNP ZDHHC14 ENST00000359775 human ensembl 74_37 +1 known missense c.1124 p.T375M 0.051 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC14 HGNC ENSG00000175048 tier1 - - 80 0 0.00 51 11 17.74 ZDHHC24 0 genome.wustl.edu 37 11 66311333 66311333 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 66311333 66311333 C T SNP ZDHHC24 ENST00000310442 human ensembl 74_37 -1 known missense c.401 p.G134D 0.689 pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC24 HGNC ENSG00000174165 tier1 - - 75 0 0.00 125 13 9.42 ZFPM2 0 genome.wustl.edu 37 8 106815226 106815226 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 106815226 106815226 A G SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.2916 p.I972M 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 tier1 - - 30 0 0.00 27 5 15.62 ZNF184 0 genome.wustl.edu 37 6 27419285 27419285 + Missense_Mutation SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 27419285 27419285 G C SNP ZNF184 ENST00000211936 human ensembl 74_37 -1 known missense c.2053 p.L685V 0.880 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF184 HGNC ENSG00000096654 tier1 - - 133 0 0.00 89 52 36.62 ZNF276 0 genome.wustl.edu 37 16 89804288 89804288 + Nonsense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 16 89804288 89804288 C T SNP ZNF276 ENST00000443381 human ensembl 74_37 +1 known nonsense c.1549 p.R517* 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_AD,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF276 HGNC ENSG00000158805 tier1 - - 148 0 0.00 89 14 13.59 ZNF501 0 genome.wustl.edu 37 3 44775970 44775970 + Missense_Mutation SNP G G T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 44775970 44775970 G T SNP ZNF501 ENST00000396048 human ensembl 74_37 +1 known missense c.57 p.K19N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF501 HGNC ENSG00000186446 tier1 - - 97 0 0.00 75 15 16.67 ZNF551 0 genome.wustl.edu 37 19 58198355 58198355 + Missense_Mutation SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 58198355 58198355 C A SNP ZNF551 ENST00000282296 human ensembl 74_37 +1 known missense c.712 p.L238I 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF551 HGNC ENSG00000204519 tier1 - - 154 0 0.00 151 18 10.59 ZNF638 0 genome.wustl.edu 37 2 71607768 71607768 + RNA SNP C C G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 71607768 71607768 C G SNP ZNF638 ENST00000486494 human ensembl 74_37 +1 putative rna NULL NULL 0.000 - - - no_errors ZNF638 HGNC ENSG00000075292 tier1 - - 26 0 0.00 21 5 19.23 ZNF99 0 genome.wustl.edu 37 19 22952090 22952090 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 22952090 22952090 C T SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.103 p.A35T 0.005 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ENSG00000213973 tier1 rs201519928 - 132 0 0.00 88 30 25.42 ZNRF3 0 genome.wustl.edu 37 22 29446820 29446820 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 22 29446820 29446820 C T SNP ZNRF3 ENST00000544604 human ensembl 74_37 +1 known missense c.2651 p.A884V 0.149 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF3 HGNC ENSG00000183579 tier1 - - 34 0 0.00 33 8 19.51 ZSCAN29 0 genome.wustl.edu 37 15 43656386 43656386 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 43656386 43656386 G A SNP ZSCAN29 ENST00000396976 human ensembl 74_37 -1 known missense c.1417 p.R473W 1.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN29 HGNC ENSG00000140265 tier1 - - 226 0 0.00 170 28 14.14 AMPD1 0 genome.wustl.edu 37 1 115220099 115220099 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 115220099 115220099 G A SNP AMPD1 ENST00000520113 human ensembl 74_37 -1 known missense c.1360 p.H454Y 1.000 pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase - no_errors AMPD1 HGNC ENSG00000116748 106 0 0 79 7 8.13953 PTCHD2 0 genome.wustl.edu 37 1 11579855 11579855 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 11579855 11579855 C T SNP PTCHD2 ENST00000294484 human ensembl 74_37 +1 known silent c.2118 p.R706 0.997 pfam_Patched pfam_Patched,pfam_MMPL_dom,pfscan_SSD - no_errors PTCHD2 HGNC ENSG00000204624 199 0 0 184 45 19.6507 TTF2 0 genome.wustl.edu 37 1 117626657 117626657 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 117626657 117626657 T C SNP TTF2 ENST00000369466 human ensembl 74_37 +1 known missense c.1921 p.S641P 0.999 pfam_SNF2_N,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_Znf_GRF,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors TTF2 HGNC ENSG00000116830 157 0 0 147 14 8.69565 FLG 0 genome.wustl.edu 37 1 152286119 152286119 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 152286119 152286119 G A SNP FLG ENST00000368799 human ensembl 74_37 -1 known missense c.1243 p.R415W 0.000 pfam_Filaggrin pfam_Filaggrin,pfam_S100_Ca-bd_sub,pfscan_EF_hand_dom,prints_Filaggrin - no_errors FLG HGNC ENSG00000143631 581 0 0 408 142 25.8182 CHRNB2 0 genome.wustl.edu 37 1 154544270 154544270 + Missense_Mutation SNP G G T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 154544270 154544270 G T SNP CHRNB2 ENST00000368476 human ensembl 74_37 +1 known missense c.971 p.R324L 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neurotrans-gated_channel_TM,pfam_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB2 HGNC ENSG00000160716 83 0 0 34 24 41.3793 CDK11B 0 genome.wustl.edu 37 1 1580528 1580528 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 1580528 1580528 C T SNP CDK11B ENST00000407249 human ensembl 74_37 -1 known missense c.599 p.R200Q 0.944 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom - no_errors CDK11B HGNC ENSG00000248333 22 0 0 29 6 17.1429 CD1D 0 genome.wustl.edu 37 1 158151920 158151920 + Missense_Mutation SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 158151920 158151920 A C SNP CD1D ENST00000368171 human ensembl 74_37 +1 known missense c.427 p.S143R 0.977 superfamily_MHC_I/II-like_Ag-recog pfam_Ig_C1-set,superfamily_MHC_I/II-like_Ag-recog,smart_Ig_C1-set,pfscan_Ig-like_dom - no_errors CD1D HGNC ENSG00000158473 351 1 0.284091 314 37 10.5413 OR10T2 0 genome.wustl.edu 37 1 158368690 158368690 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 158368690 158368690 G A SNP OR10T2 ENST00000334438 human ensembl 74_37 -1 known silent c.567 p.A189 0.983 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR10T2 HGNC ENSG00000186306 66 0 0 60 10 14.2857 OR6N1 0 genome.wustl.edu 37 1 158736313 158736313 + Silent SNP G G T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 158736313 158736313 G T SNP OR6N1 ENST00000335094 human ensembl 74_37 -1 known silent c.160 p.R54 0.000 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR6N1 HGNC ENSG00000197403 94 0 0 60 27 31.0345 CADM3 0 genome.wustl.edu 37 1 159163218 159163218 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 159163218 159163218 C T SNP CADM3 ENST00000368124 human ensembl 74_37 +1 known missense c.490 p.P164S 1.000 pfscan_Ig-like_dom pfam_Ig_I-set,pfam_CD80_C2-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Ig_C1-set,smart_Ig_sub,smart_Ig_sub2,smart_Neurexin-like,pfscan_Ig-like_dom - no_errors CADM3 HGNC ENSG00000162706 90 0 0 87 7 7.44681 SELL 0 genome.wustl.edu 37 1 169672428 169672428 + Missense_Mutation SNP C C G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 169672428 169672428 C G SNP SELL ENST00000236147 human ensembl 74_37 -1 known missense c.959 p.G320A 0.992 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_Sushi_SCR_CCP pfam_C-type_lectin,pfam_Sushi_SCR_CCP,pfam_EG-like_dom,superfamily_C-type_lectin_fold,superfamily_Sushi_SCR_CCP,smart_C-type_lectin,smart_EG-like_dom,smart_Sushi_SCR_CCP,pirsf_L-selectin,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Sushi_SCR_CCP,prints_Selectin_superfamily - no_errors SELL HGNC ENSG00000188404 33 0 0 52 8 13.3333 PRRX1 0 genome.wustl.edu 37 1 170688908 170688908 + Nonsense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 170688908 170688908 C T SNP PRRX1 ENST00000239461 human ensembl 74_37 +1 known nonsense c.283 p.R95* 1.000 pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_OAR_dom,pfscan_Homeobox_dom - no_errors PRRX1 HGNC ENSG00000116132 72 0 0 37 28 43.0769 TNR 0 genome.wustl.edu 37 1 175365679 175365679 + Splice_Site SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 175365679 175365679 C T SNP TNR ENST00000263525 human ensembl 74_37 -1 known splice_site c.1240+1 e3+1 1.000 - - - no_errors TNR HGNC ENSG00000116147 69 0 0 67 9 11.8421 PAPPA2 0 genome.wustl.edu 37 1 176564058 176564058 + Missense_Mutation SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 176564058 176564058 C A SNP PAPPA2 ENST00000367662 human ensembl 74_37 +1 known missense c.1318 p.H440N 0.689 superfamily_ConA-like_lec_gl_sf pfam_Notch_dom,pfam_Sushi_SCR_CCP,pfam_Peptidase_M43,superfamily_ConA-like_lec_gl_sf,superfamily_Sushi_SCR_CCP,superfamily_Fibronectin_type3,superfamily_Notch_dom,smart_LamG-like,smart_Notch_dom,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP,tigrfam_Myxo_disulph_rpt - no_errors PAPPA2 HGNC ENSG00000116183 164 0 0 91 39 30 CFH 0 genome.wustl.edu 37 1 196643035 196643035 + Missense_Mutation SNP T T A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 196643035 196643035 T A SNP CFH ENST00000367429 human ensembl 74_37 +1 known missense c.293 p.L98H 0.241 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP - no_errors CFH HGNC ENSG00000000971 126 0 0 93 48 34.0426 CENPF 0 genome.wustl.edu 37 1 214819304 214819304 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 214819304 214819304 G A SNP CENPF ENST00000366955 human ensembl 74_37 +1 known missense c.6391 p.D2131N 1.000 pfam_Centromere_CenpF_leu-rich_rpt pfam_Centromere_CenpF_N,pfam_Centromere_CenpF_leu-rich_rpt,pfam_CenpF/LEK1_Rb-prot-bd - no_errors CENPF HGNC ENSG00000117724 103 0 0 97 10 9.34579 KIAA1804 0 genome.wustl.edu 37 1 233512265 233512265 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 233512265 233512265 A G SNP KIAA1804 ENST00000366624 human ensembl 74_37 +1 known missense c.1916 p.D639G 1.000 pirsf_MAPKKK9/10/11 pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_dom - no_errors MLK4 Uniprot_gn ENSG00000143674 75 0 0 53 13 19.697 ADSS 0 genome.wustl.edu 37 1 244615083 244615083 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 244615083 244615083 G A SNP ADSS ENST00000366535 human ensembl 74_37 -1 known silent c.37 p.L13 0.017 NULL pfam_Adenylosuccinate_synthetase,superfamily_P-loop_NTPase,smart_Adenylosuccinate_synthetase,tigrfam_Adenylosuccinate_synthetase - no_errors ADSS HGNC ENSG00000035687 21 0 0 19 4 17.3913 OR11L1 0 genome.wustl.edu 37 1 248004834 248004834 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 248004834 248004834 C T SNP OR11L1 ENST00000355784 human ensembl 74_37 -1 known missense c.365 p.R122H 0.996 pfam_GPCR_Rhodpsn,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM - no_errors OR11L1 HGNC ENSG00000197591 69 0 0 50 5 9.09091 OR2L8 0 genome.wustl.edu 37 1 248112402 248112402 + Silent SNP A A T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 248112402 248112402 A T SNP OR2L8 ENST00000357191 human ensembl 74_37 +1 known silent c.243 p.A81 0.001 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR2L8 HGNC ENSG00000196936 434 1 0.229885 250 124 33.1551 ACTRT2 0 genome.wustl.edu 37 1 2939155 2939155 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 2939155 2939155 C T SNP ACTRT2 ENST00000378404 human ensembl 74_37 +1 known missense c.905 p.S302L 1.000 pfam_Actin-related,smart_Actin-related pfam_Actin-related,smart_Actin-related,prints_Actin-related - no_errors ACTRT2 HGNC ENSG00000169717 178 0 0 181 55 23.3051 PRDM16 0 genome.wustl.edu 37 1 3322163 3322163 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 3322163 3322163 C T SNP PRDM16 ENST00000270722 human ensembl 74_37 +1 known silent c.1137 p.S379 0.066 smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Znf_BED_prd,smart_SET_dom,smart_Znf_C2H2-like,pfscan_SET_dom,pfscan_Znf_C2H2 - no_errors PRDM16 HGNC ENSG00000142611 150 0 0 139 51 26.8421 HPDL 0 genome.wustl.edu 37 1 45793415 45793415 + Missense_Mutation SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 45793415 45793415 C A SNP HPDL ENST00000334815 human ensembl 74_37 +1 known missense c.595 p.L199M 0.403 pirsf_4OHPhenylPyrv_dOase pirsf_4OHPhenylPyrv_dOase - no_errors HPDL HGNC ENSG00000186603 92 0 0 117 7 5.64516 C8A 0 genome.wustl.edu 37 1 57383376 57383376 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 57383376 57383376 C T SNP C8A ENST00000361249 human ensembl 74_37 +1 known missense c.1742 p.T581M 0.486 pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt pfam_MACPF,pfam_LDrepeatLR_classA_rpt,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,superfamily_LDrepeatLR_classA_rpt,smart_Thrombospondin_1_rpt,smart_LDrepeatLR_classA_rpt,smart_MACPF,pfscan_LDrepeatLR_classA_rpt,pfscan_Thrombospondin_1_rpt,prints_MAC_perforin - no_errors C8A HGNC ENSG00000157131 80 0 0 58 16 21.6216 TM2D1 0 genome.wustl.edu 37 1 62190931 62190931 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 62190931 62190931 C T SNP TM2D1 ENST00000371180 human ensembl 74_37 -1 known silent c.48 p.G16 0.000 NULL pfam_TM2 - no_errors TM2D1 HGNC ENSG00000162604 16 0 0 27 3 10 WDR63 0 genome.wustl.edu 37 1 85555822 85555822 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 85555822 85555822 C T SNP WDR63 ENST00000294664 human ensembl 74_37 +1 known missense c.764 p.T255M 0.114 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat - no_errors WDR63 HGNC ENSG00000162643 96 0 0 80 9 10.1124 NKX2-3 0 genome.wustl.edu 37 10 101295002 101295002 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 101295002 101295002 C T SNP NKX2-3 ENST00000344586 human ensembl 74_37 +1 known missense c.619 p.R207W 1.000 superfamily_Homeodomain-like,smart_Homeobox_dom pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-3 HGNC ENSG00000119919 33 0 0 30 9 23.0769 PKD2L1 0 genome.wustl.edu 37 10 102089753 102089753 + Silent SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 102089753 102089753 T C SNP PKD2L1 ENST00000318222 human ensembl 74_37 -1 known silent c.108 p.R36 0.002 NULL pfam_PKD1_2_channel,pfam_Ion_trans_dom,prints_PKD_2,prints_PKD_1 - no_errors PKD2L1 HGNC ENSG00000107593 214 1 0.465116 115 42 26.7516 MMP21 0 genome.wustl.edu 37 10 127462501 127462501 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 127462501 127462501 G A SNP MMP21 ENST00000368808 human ensembl 74_37 -1 known missense c.596 p.A199V 0.989 pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,smart_Peptidase_Metallo,prints_Pept_M10A pirsf_Pept_M10A_Metazoans,pfam_Pept_M10_metallopeptidase,pfam_Hemopexin-like_repeat,pfam_Peptidoglycan-bd-like,superfamily_Hemopexin-like_dom,superfamily_Peptidoglycan-bd-like,smart_Peptidase_Metallo,smart_Hemopexin-like_repeat,prints_Pept_M10A - no_errors MMP21 HGNC ENSG00000154485 60 0 0 50 14 21.875 ADARB2 0 genome.wustl.edu 37 10 1284314 1284314 + Missense_Mutation SNP T T A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 1284314 1284314 T A SNP ADARB2 ENST00000381312 human ensembl 74_37 -1 known missense c.1241 p.K414M 1.000 pfam_A_deamin,smart_A_deamin,pfscan_A_deamin pfam_A_deamin,pfam_dsRNA-bd_dom,smart_dsRNA-bd_dom,smart_A_deamin,pfscan_dsRNA-bd_dom,pfscan_A_deamin - no_errors ADARB2 HGNC ENSG00000185736 19 0 0 7 9 56.25 EBF3 0 genome.wustl.edu 37 10 131636204 131636204 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 131636204 131636204 G A SNP EBF3 ENST00000355311 human ensembl 74_37 -1 known missense c.1780 p.P594S 1.000 NULL pfam_IPT,superfamily_Ig_E-set,smart_IPT - no_errors EBF3 HGNC ENSG00000108001 65 0 0 44 10 18.5185 CUBN 0 genome.wustl.edu 37 10 16916401 16916401 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 16916401 16916401 C T SNP CUBN ENST00000377833 human ensembl 74_37 -1 known missense c.9208 p.V3070I 0.166 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_EG-like_dom,pfam_EGF-like_Ca-bd_dom,superfamily_CUB_dom,superfamily_Growth_fac_rcpt_N_dom,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_CUB_dom,pfscan_CUB_dom,pfscan_EG-like_dom - no_errors CUBN HGNC ENSG00000107611 168 0 0 125 77 38.1188 SLC39A12 0 genome.wustl.edu 37 10 18250551 18250551 + Silent SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 18250551 18250551 T C SNP SLC39A12 ENST00000377369 human ensembl 74_37 +1 known silent c.303 p.N101 0.115 NULL pfam_ZIP - no_errors SLC39A12 HGNC ENSG00000148482 122 0 0 76 59 43.7037 ARHGAP12 0 genome.wustl.edu 37 10 32132415 32132415 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 32132415 32132415 T C SNP ARHGAP12 ENST00000344936 human ensembl 74_37 -1 known missense c.1270 p.T424A 1.000 NULL pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_SH3_domain,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_dom,smart_SH3_domain,smart_WW_dom,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_dom,pfscan_RhoGAP_dom - no_errors ARHGAP12 HGNC ENSG00000165322 140 1 0.70922 104 43 29.2517 ANKRD30A 0 genome.wustl.edu 37 10 37430822 37430822 + Nonsense_Mutation SNP G G T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 37430822 37430822 G T SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known nonsense c.829 p.E277* 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 60 0 0 65 12 15.5844 ANKRD30A 0 genome.wustl.edu 37 10 37430823 37430823 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 37430823 37430823 A G SNP ANKRD30A ENST00000361713 human ensembl 74_37 +1 known missense c.830 p.E277G 0.001 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom - no_errors ANKRD30A HGNC ENSG00000148513 61 0 0 65 12 15.5844 SLC18A3 0 genome.wustl.edu 37 10 50820023 50820023 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 50820023 50820023 C T SNP SLC18A3 ENST00000374115 human ensembl 74_37 +1 known missense c.1237 p.H413Y 1.000 pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom - no_errors SLC18A3 HGNC ENSG00000187714 68 0 0 47 11 18.9655 TMEM26 0 genome.wustl.edu 37 10 63188734 63188734 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 63188734 63188734 C T SNP TMEM26 ENST00000399298 human ensembl 74_37 -1 known silent c.555 p.A185 0.167 pfam_Transmembrane_26 pfam_Transmembrane_26 - no_errors TMEM26 HGNC ENSG00000196932 84 0 0 61 19 23.75 PRKCQ 0 genome.wustl.edu 37 10 6521004 6521004 + Missense_Mutation SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 6521004 6521004 C A SNP PRKCQ ENST00000263125 human ensembl 74_37 -1 known missense c.1303 p.A435S 1.000 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Prot_kin_PKC_delta,pfscan_Prot_kinase_dom pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,superfamily_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pirsf_Prot_kin_PKC_delta,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors PRKCQ HGNC ENSG00000065675 93 0 0 69 16 18.8235 HK1 0 genome.wustl.edu 37 10 71142292 71142292 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 71142292 71142292 G A SNP HK1 ENST00000448642 human ensembl 74_37 +1 known missense c.1420 p.D474N 0.999 pfam_Hexokinase_C pfam_Hexokinase_C,pfam_Hexokinase_N,prints_Hexokinase - no_errors HK1 HGNC ENSG00000156515 109 0 0 75 16 17.5824 CDH23 0 genome.wustl.edu 37 10 73560492 73560492 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 73560492 73560492 C T SNP CDH23 ENST00000398788 human ensembl 74_37 +1 known missense c.742 p.R248C 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH23 HGNC ENSG00000107736 49 0 0 54 5 8.47458 ITIH5 0 genome.wustl.edu 37 10 7608116 7608116 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 7608116 7608116 C T SNP ITIH5 ENST00000256861 human ensembl 74_37 -1 known missense c.2404 p.G802S 1.000 pfam_ITI_HC_C pfam_ITI_HC_C,pfam_VIT,pfam_VWF_A,smart_VIT,smart_VWF_A,pfscan_VWF_A - no_errors ITIH5 HGNC ENSG00000123243 66 0 0 58 24 29.2683 ATP5C1 0 genome.wustl.edu 37 10 7844266 7844266 + Missense_Mutation SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 7844266 7844266 A C SNP ATP5C1 ENST00000356708 human ensembl 74_37 +1 known missense c.671 p.D224A 1.000 pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,tigrfam_ATPase_F1-cplx_gsu pfam_ATPase_F1-cplx_gsu,superfamily_ATPase_F1_gsu_dom,prints_ATPase_F1-cplx_gsu,tigrfam_ATPase_F1-cplx_gsu - no_errors ATP5C1 HGNC ENSG00000165629 79 0 0 59 17 22.3684 SFTPA1 0 genome.wustl.edu 37 10 81371633 81371633 + Missense_Mutation SNP G G T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 81371633 81371633 G T SNP SFTPA1 ENST00000419470 human ensembl 74_37 +1 known missense c.97 p.A33S 0.000 NULL pfam_C-type_lectin,pfam_Collagen,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors SFTPA1 HGNC ENSG00000122852 264 0 0 170 45 20.9302 LARP4B 0 genome.wustl.edu 37 10 875402 875402 + Nonsense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 875402 875402 G A SNP LARP4B ENST00000316157 human ensembl 74_37 -1 known nonsense c.1048 p.Q350* 1.000 NULL pfam_Lupus_La_RNA-bd,smart_Lupus_La_RNA-bd,pfscan_Lupus_La_RNA-bd - no_errors LARP4B HGNC ENSG00000107929 77 0 0 77 16 17.2043 TM9SF3 0 genome.wustl.edu 37 10 98287046 98287046 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 10 98287046 98287046 C T SNP TM9SF3 ENST00000371142 human ensembl 74_37 -1 known silent c.1626 p.K542 1.000 pfam_EMP70 pfam_EMP70 - no_errors TM9SF3 HGNC ENSG00000077147 47 0 0 36 11 23.4043 MMP12 0 genome.wustl.edu 37 11 102738680 102738680 + RNA SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 102738680 102738680 C T SNP MMP12 ENST00000326227 human ensembl 74_37 -1 known rna NULL NULL 0.000 - - - no_errors MMP12 HGNC ENSG00000110347 28 0 0 14 7 33.3333 FDX1 0 genome.wustl.edu 37 11 110306593 110306593 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 110306593 110306593 G A SNP FDX1 ENST00000260270 human ensembl 74_37 +1 known missense c.221 p.R74H 0.998 pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pfscan_2Fe-2S_ferredoxin-type,prints_Adrenodoxin - no_errors FDX1 HGNC ENSG00000137714 73 0 0 55 20 26.6667 HTR3B 0 genome.wustl.edu 37 11 113803163 113803163 + Missense_Mutation SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 113803163 113803163 A C SNP HTR3B ENST00000260191 human ensembl 74_37 +1 known missense c.521 p.K174T 0.656 pfam_Neur_chan_lig-bd,superfamily_Neur_chan_lig-bd,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_5HT3_rcpt_B,prints_5HT3_rcpt,prints_Neur_channel,prints_5HT3_rcpt_A,tigrfam_Neur_channel - no_errors HTR3B HGNC ENSG00000149305 105 0 0 77 22 22.2222 TECTA 0 genome.wustl.edu 37 11 120996400 120996400 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 120996400 120996400 C T SNP TECTA ENST00000264037 human ensembl 74_37 +1 known silent c.1593 p.D531 0.060 pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_ZP_dom,pfam_Nidogen_extracell_dom,pfam_TIL_dom,superfamily_TIL_dom,smart_Nidogen_extracell_dom,smart_VWC_out,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_ZP_dom,pfscan_ZP_dom - no_errors TECTA HGNC ENSG00000109927 274 0 0 174 58 25 OR8B2 0 genome.wustl.edu 37 11 124252389 124252389 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 124252389 124252389 A G SNP OR8B2 ENST00000375013 human ensembl 74_37 -1 known missense c.851 p.L284P 0.489 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR8B2 HGNC ENSG00000204293 144 0 0 126 45 26.3158 VSIG2 0 genome.wustl.edu 37 11 124618613 124618613 + Silent SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 124618613 124618613 G C SNP VSIG2 ENST00000326621 human ensembl 74_37 -1 known silent c.633 p.S211 1.000 pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_V-set,pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors VSIG2 HGNC ENSG00000019102 66 0 0 52 14 21.2121 KIRREL3 0 genome.wustl.edu 37 11 126301404 126301404 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 126301404 126301404 C T SNP KIRREL3 ENST00000525144 human ensembl 74_37 -1 known missense c.1606 p.V536I 1.000 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors KIRREL3 HGNC ENSG00000149571 58 0 0 24 5 17.2414 MUC5B 0 genome.wustl.edu 37 11 1267665 1267665 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 1267665 1267665 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.9564 p.S3188 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 207 0 0 92 64 41.0256 MUC5B 0 genome.wustl.edu 37 11 1269786 1269786 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 1269786 1269786 C T SNP MUC5B ENST00000447027 human ensembl 74_37 +1 known silent c.11685 p.S3895 0.000 NULL pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C - no_errors MUC5B HGNC ENSG00000117983 140 0 0 60 24 28.5714 KIAA1549L 0 genome.wustl.edu 37 11 33565307 33565307 + Missense_Mutation SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 33565307 33565307 G C SNP KIAA1549L ENST00000389726 human ensembl 74_37 +1 known missense c.1307 p.S436T 0.599 NULL NULL - no_errors KIAA1549L HGNC ENSG00000110427 138 0 0 92 409 81.6367 MYBPC3 0 genome.wustl.edu 37 11 47372950 47372950 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 47372950 47372950 G A SNP MYBPC3 ENST00000399249 human ensembl 74_37 -1 known silent c.132 p.R44 0.024 pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2 pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYBPC3 HGNC ENSG00000134571 26 0 0 22 12 35.2941 NUP160 0 genome.wustl.edu 37 11 47830054 47830054 + Missense_Mutation SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 47830054 47830054 G C SNP NUP160 ENST00000378460 human ensembl 74_37 -1 known missense c.2269 p.Q757E 1.000 NULL pfam_Nucleoporin_Nup160 - no_errors NUP160 HGNC ENSG00000030066 74 0 0 59 16 21.3333 OR4A16 0 genome.wustl.edu 37 11 55110990 55110990 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 55110990 55110990 T G SNP OR4A16 ENST00000314721 human ensembl 74_37 +1 known missense c.314 p.L105R 0.011 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR4A16 HGNC ENSG00000181961 310 1 0.321543 209 24 10.3004 OR52B2 0 genome.wustl.edu 37 11 6190619 6190619 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 6190619 6190619 T G SNP OR52B2 ENST00000530810 human ensembl 74_37 -1 known missense c.938 p.K313T 0.226 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn - no_errors OR52B2 HGNC ENSG00000255307 101 0 0 66 12 15.3846 TAF6L 0 genome.wustl.edu 37 11 62549652 62549652 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 62549652 62549652 G A SNP TAF6L ENST00000294168 human ensembl 74_37 +1 known missense c.674 p.R225H 1.000 NULL pfam_TAF_TATA-bd,pfam_DUF1546,superfamily_Histone-fold,smart_TAF_TATA-bd - no_errors TAF6L HGNC ENSG00000162227 168 0 0 136 27 16.5644 HPX 0 genome.wustl.edu 37 11 6452560 6452560 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 6452560 6452560 C T SNP HPX ENST00000265983 human ensembl 74_37 -1 known missense c.1270 p.G424S 0.000 superfamily_Hemopexin-like_dom,pirsf_Hemopexin_chordata pfam_Hemopexin-like_repeat,superfamily_Hemopexin-like_dom,smart_Hemopexin-like_repeat,pirsf_Hemopexin_chordata - no_errors HPX HGNC ENSG00000110169 178 0 0 90 43 32.3308 SF1 0 genome.wustl.edu 37 11 64535599 64535599 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 64535599 64535599 G A SNP SF1 ENST00000377390 human ensembl 74_37 -1 known silent c.1047 p.P349 0.039 NULL pfam_KH_dom_type_1,pfam_Znf_CCHC,superfamily_Znf_CCHC,smart_KH_dom,smart_Znf_CCHC,pfscan_Znf_CCHC,pfscan_KH_dom_type_1 - no_errors SF1 HGNC ENSG00000168066 72 0 0 53 19 26.3889 VPS51 0 genome.wustl.edu 37 11 64875340 64875340 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 64875340 64875340 G A SNP VPS51 ENST00000279281 human ensembl 74_37 +1 known missense c.571 p.V191M 0.963 pfam_COG8,pfam_Vacuolar_sorting-assoc_54,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom pfam_COG8,pfam_Vacuolar_sorting-assoc_54,pfam_COG_su2_N,pfam_RZZ-complex_Zw10,superfamily_Cullin_repeat-like_dom - no_errors VPS51 HGNC ENSG00000149823 10 0 0 11 4 26.6667 ZDHHC24 0 genome.wustl.edu 37 11 66311333 66311333 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 66311333 66311333 C T SNP ZDHHC24 ENST00000310442 human ensembl 74_37 -1 known missense c.401 p.G134D 0.689 pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC24 HGNC ENSG00000174165 70 0 0 117 10 7.87402 CORO1B 0 genome.wustl.edu 37 11 67209479 67209479 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 67209479 67209479 G A SNP CORO1B ENST00000341356 human ensembl 74_37 -1 known silent c.282 p.N94 0.513 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors CORO1B HGNC ENSG00000172725 82 0 0 118 19 13.8686 EPS8L2 0 genome.wustl.edu 37 11 726309 726309 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 726309 726309 A G SNP EPS8L2 ENST00000318562 human ensembl 74_37 +1 known missense c.1759 p.M587V 0.998 NULL pfam_PTB,pfam_SH3_domain,pfam_PTB/PI_dom,pfam_SH3_2,superfamily_SH3_domain,superfamily_SAM/pointed,smart_PTB/PI_dom,smart_SH3_domain,pfscan_PTB/PI_dom,pfscan_SH3_domain - no_errors EPS8L2 HGNC ENSG00000177106 30 0 0 20 8 28.5714 C11orf30 0 genome.wustl.edu 37 11 76183702 76183702 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 76183702 76183702 C T SNP C11orf30 ENST00000334736 human ensembl 74_37 +1 known missense c.926 p.T309M 1.000 NULL pfam_ENT_N,pfscan_ENT_N - no_errors C11orf30 HGNC ENSG00000158636 114 0 0 159 16 9.14286 TENM4 0 genome.wustl.edu 37 11 78380831 78380831 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 78380831 78380831 C T SNP TENM4 ENST00000278550 human ensembl 74_37 -1 known missense c.6559 p.A2187T 1.000 NULL pfam_Ten_N,pfam_EGF_extracell,pfam_YD,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD,tigrfam_Rhs_assc_core - no_errors TENM4 HGNC ENSG00000149256 60 0 0 63 10 13.6986 SYTL2 0 genome.wustl.edu 37 11 85445391 85445391 + Silent SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 85445391 85445391 C A SNP SYTL2 ENST00000316356 human ensembl 74_37 -1 known silent c.981 p.L327 0.053 NULL pfam_C2_dom,superfamily_C2_dom,superfamily_Znf_FYVE_PHD,smart_C2_dom,pfscan_C2_dom,pfscan_Znf_FYVE-typ - no_errors SYTL2 HGNC ENSG00000137501 197 1 0.505051 176 39 18.1395 FOLH1B 0 genome.wustl.edu 37 11 89424117 89424117 + RNA SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 89424117 89424117 A C SNP FOLH1B ENST00000525540 human ensembl 74_37 +1 known rna NULL NULL 0.176 - - - no_errors FOLH1B HGNC ENSG00000134612 85 0 0 101 16 13.6752 FAT3 0 genome.wustl.edu 37 11 92087232 92087232 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 92087232 92087232 A G SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known missense c.1954 p.R652G 0.959 superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 45 0 0 56 5 8.19672 FAT3 0 genome.wustl.edu 37 11 92616432 92616432 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 92616432 92616432 G A SNP FAT3 ENST00000298047 human ensembl 74_37 +1 known silent c.12810 p.S4270 0.001 NULL pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin - no_errors FAT3 HGNC ENSG00000165323 216 0 0 240 52 17.8082 CCDC82 0 genome.wustl.edu 37 11 96086843 96086843 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 96086843 96086843 C T SNP CCDC82 ENST00000278520 human ensembl 74_37 -1 known silent c.1602 p.A534 0.967 NULL NULL - no_errors CCDC82 HGNC ENSG00000149231 148 0 0 122 26 17.5676 CCDC82 0 genome.wustl.edu 37 11 96117157 96117157 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 96117157 96117157 C T SNP CCDC82 ENST00000278520 human ensembl 74_37 -1 known missense c.755 p.R252H 0.913 NULL NULL - no_errors CCDC82 HGNC ENSG00000149231 116 0 0 110 34 23.6111 UHRF1BP1L 0 genome.wustl.edu 37 12 100452225 100452225 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 100452225 100452225 T C SNP UHRF1BP1L ENST00000279907 human ensembl 74_37 -1 known missense c.2830 p.K944E 0.904 NULL NULL - no_errors UHRF1BP1L HGNC ENSG00000111647 66 0 0 70 5 6.66667 CLEC12A 0 genome.wustl.edu 37 12 10133223 10133223 + Missense_Mutation SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 10133223 10133223 A C SNP CLEC12A ENST00000355690 human ensembl 74_37 +1 known missense c.452 p.K151T 0.000 superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin - no_errors CLEC12A HGNC ENSG00000172322 142 0 0 105 37 26.0563 PWP1 0 genome.wustl.edu 37 12 108082531 108082531 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 108082531 108082531 G A SNP PWP1 ENST00000412830 human ensembl 74_37 +1 known missense c.271 p.E91K 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors PWP1 HGNC ENSG00000136045 45 0 0 48 13 21.3115 DNAH10 0 genome.wustl.edu 37 12 124352667 124352667 + Splice_Site SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 124352667 124352667 G A SNP DNAH10 ENST00000409039 human ensembl 74_37 +1 known splice_site c.7165+1 e42+1 1.000 - - - no_errors DNAH10 HGNC ENSG00000197653 35 0 0 29 4 12.1212 EP400NL 0 genome.wustl.edu 37 12 132589453 132589453 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 132589453 132589453 C T SNP EP400NL ENST00000376625 human ensembl 74_37 +1 known silent c.888 p.G296 0.002 NULL NULL - no_errors EP400NL HGNC ENSG00000185684 16 0 0 6 4 40 PDE3A 0 genome.wustl.edu 37 12 20833196 20833196 + Silent SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 20833196 20833196 A G SNP PDE3A ENST00000359062 human ensembl 74_37 +1 known silent c.3417 p.P1139 0.009 NULL pfam_PDEase_catalytic_dom,smart_HD/PDEase_dom - no_errors PDE3A HGNC ENSG00000172572 94 0 0 79 5 5.95238 IFLTD1 0 genome.wustl.edu 37 12 25672806 25672806 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 25672806 25672806 T G SNP IFLTD1 ENST00000458174 human ensembl 74_37 -1 known missense c.1002 p.Q334H 0.000 NULL pfam_Lamin_tail_dom - no_errors IFLTD1 HGNC ENSG00000152936 98 0 0 70 19 21.3483 TMTC1 0 genome.wustl.edu 37 12 29920871 29920871 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 29920871 29920871 G A SNP TMTC1 ENST00000256062 human ensembl 74_37 -1 known missense c.116 p.T39M 0.978 NULL pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom - no_errors TMTC1 HGNC ENSG00000133687 85 0 0 82 7 7.86517 DDX11 0 genome.wustl.edu 37 12 31238023 31238023 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 31238023 31238023 G A SNP DDX11 ENST00000407793 human ensembl 74_37 +1 known missense c.601 p.E201K 0.986 superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 pfam_DEAD_2,superfamily_P-loop_NTPase,smart_Helicase-like_DEXD_c2,smart_ATP-dep_Helicase_C,pfscan_Helic_SF1/SF2_ATP-bd_DinG/Rad3,tigrfam_DNA_helicase_DNA-repair_Rad3 - no_errors DDX11 HGNC ENSG00000013573 20 0 0 18 3 14.2857 NCKAP5L 0 genome.wustl.edu 37 12 50188845 50188845 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 50188845 50188845 C T SNP NCKAP5L ENST00000335999 human ensembl 74_37 -1 known missense c.2798 p.R933H 1.000 NULL NULL - no_errors NCKAP5L HGNC ENSG00000167566 31 0 0 24 5 17.2414 FAIM2 0 genome.wustl.edu 37 12 50295007 50295007 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 50295007 50295007 C T SNP FAIM2 ENST00000320634 human ensembl 74_37 -1 known silent c.117 p.E39 1.000 NULL pfam_Bax_inhibitor_1-related - no_errors FAIM2 HGNC ENSG00000135472 94 0 0 91 9 9 CSAD 0 genome.wustl.edu 37 12 53564266 53564266 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 53564266 53564266 C T SNP CSAD ENST00000475890 human ensembl 74_37 -1 known missense c.641 p.R214K 0.997 NULL pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase - no_errors CSAD HGNC ENSG00000139631 104 0 0 76 15 16.4835 DTX3 0 genome.wustl.edu 37 12 58002361 58002361 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 58002361 58002361 C T SNP DTX3 ENST00000551632 human ensembl 74_37 +1 known missense c.818 p.P273L 1.000 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors DTX3 HGNC ENSG00000178498 107 0 0 82 19 18.8119 AGAP2 0 genome.wustl.edu 37 12 58124619 58124619 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 58124619 58124619 C T SNP AGAP2 ENST00000547588 human ensembl 74_37 -1 known missense c.2263 p.G755R 1.000 pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase - no_errors AGAP2 HGNC ENSG00000135439 45 0 0 35 7 16.6667 GRIP1 0 genome.wustl.edu 37 12 66849287 66849287 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 66849287 66849287 G A SNP GRIP1 ENST00000359742 human ensembl 74_37 -1 known missense c.1256 p.S419F 1.000 NULL pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors GRIP1 HGNC ENSG00000155974 141 0 0 105 40 27.5862 TBC1D15 0 genome.wustl.edu 37 12 72266761 72266761 + Missense_Mutation SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 72266761 72266761 C A SNP TBC1D15 ENST00000550746 human ensembl 74_37 +1 known missense c.182 p.S61Y 1.000 pfam_DUF3548 pfam_DUF3548,pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom - no_errors TBC1D15 HGNC ENSG00000121749 149 0 0 149 23 13.3721 TRHDE 0 genome.wustl.edu 37 12 73046128 73046128 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 73046128 73046128 T C SNP TRHDE ENST00000261180 human ensembl 74_37 +1 known missense c.2567 p.V856A 1.000 NULL pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors TRHDE HGNC ENSG00000072657 102 0 0 79 19 19.3878 PPFIA2 0 genome.wustl.edu 37 12 82147836 82147836 + Missense_Mutation SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 82147836 82147836 G C SNP PPFIA2 ENST00000549396 human ensembl 74_37 -1 known missense c.165 p.S55R 1.000 NULL pfam_SAM_type1,pfam_SAM_2,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA2 HGNC ENSG00000139220 43 0 0 39 14 26.4151 PZP 0 genome.wustl.edu 37 12 9307391 9307391 + Missense_Mutation SNP C C G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 9307391 9307391 C G SNP PZP ENST00000261336 human ensembl 74_37 -1 known missense c.3595 p.V1199L 0.000 pfam_A2M_comp,superfamily_Terpenoid_cyclase/PrenylTrfase pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,pfam_SV_autoAg,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd - no_errors PZP HGNC ENSG00000126838 71 0 0 50 15 23.0769 CRADD 0 genome.wustl.edu 37 12 94243950 94243950 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 94243950 94243950 G A SNP CRADD ENST00000332896 human ensembl 74_37 +1 known missense c.503 p.R168Q 1.000 pfam_Death_domain,superfamily_DEATH-like_dom,smart_Death_domain,pfscan_Death_domain pfam_CARD,pfam_Death_domain,superfamily_DEATH-like_dom,smart_CARD,smart_Death_domain,pfscan_CARD,pfscan_Death_domain - no_errors CRADD HGNC ENSG00000169372 119 0 0 78 12 13.3333 PLXNC1 0 genome.wustl.edu 37 12 94654614 94654614 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 12 94654614 94654614 C T SNP PLXNC1 ENST00000258526 human ensembl 74_37 +1 known missense c.3448 p.R1150W 0.988 pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Plexin_repeat,pfam_IPT,superfamily_Semap_dom,superfamily_Rho_GTPase_activation_prot,superfamily_Plexin-like_fold,superfamily_Ig_E-set,smart_Semap_dom,smart_Plexin-like_fold,smart_IPT,pfscan_Semap_dom - no_errors PLXNC1 HGNC ENSG00000136040 46 0 0 28 6 17.6471 NALCN 0 genome.wustl.edu 37 13 101795569 101795569 + Missense_Mutation SNP C C G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 13 101795569 101795569 C G SNP NALCN ENST00000251127 human ensembl 74_37 -1 known missense c.1980 p.E660D 0.949 NULL pfam_Ion_trans_dom - no_errors NALCN HGNC ENSG00000102452 67 0 0 40 12 23.0769 ATP4B 0 genome.wustl.edu 37 13 114309158 114309158 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 13 114309158 114309158 G A SNP ATP4B ENST00000335288 human ensembl 74_37 -1 known missense c.212 p.P71L 0.971 pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta pfam_Na/K_ATPase_sub_beta,tigrfam_Na/K_ATPase_sub_beta - no_errors ATP4B HGNC ENSG00000186009 61 0 0 28 18 39.1304 TNFRSF19 0 genome.wustl.edu 37 13 24234513 24234513 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 13 24234513 24234513 G A SNP TNFRSF19 ENST00000382258 human ensembl 74_37 +1 known missense c.620 p.R207Q 1.000 prints_TNFR_19 smart_TNFR/NGFR_Cys_rich_reg,pfscan_TNFR/NGFR_Cys_rich_reg,prints_TNFR_19 - no_errors TNFRSF19 HGNC ENSG00000127863 143 0 0 111 17 13.2812 PABPC3 0 genome.wustl.edu 37 13 25670410 25670410 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 13 25670410 25670410 C T SNP PABPC3 ENST00000281589 human ensembl 74_37 +1 known missense c.74 p.A25V 1.000 pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_PABP_1234 pfam_RRM_dom,pfam_PABP_HYD,superfamily_PABP_HYD,smart_RRM_dom,smart_RRM_dom_euk,smart_PABP_HYD,pfscan_RRM_dom,tigrfam_PABP_1234 - no_errors PABPC3 HGNC ENSG00000151846 148 0 0 74 43 36.7521 MTUS2 0 genome.wustl.edu 37 13 29601027 29601027 + Missense_Mutation SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 13 29601027 29601027 A C SNP MTUS2 ENST00000431530 human ensembl 74_37 +1 known missense c.2222 p.K741T 1.000 NULL NULL - no_errors MTUS2 HGNC ENSG00000132938 57 0 0 51 9 15 PCDH17 0 genome.wustl.edu 37 13 58298857 58298857 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 13 58298857 58298857 G A SNP PCDH17 ENST00000377918 human ensembl 74_37 +1 known missense c.2909 p.R970H 1.000 NULL pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH17 HGNC ENSG00000118946 78 0 0 67 11 14.1026 PCDH9 0 genome.wustl.edu 37 13 67801206 67801206 + Missense_Mutation SNP C C G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 13 67801206 67801206 C G SNP PCDH9 ENST00000377865 human ensembl 74_37 -1 known missense c.1367 p.R456T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDH9 HGNC ENSG00000184226 101 0 0 78 22 22 KLHL1 0 genome.wustl.edu 37 13 70413190 70413190 + Silent SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 13 70413190 70413190 A C SNP KLHL1 ENST00000377844 human ensembl 74_37 -1 known silent c.1332 p.T444 0.998 NULL pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like - no_errors KLHL1 HGNC ENSG00000150361 126 1 0.787402 112 10 8.19672 KLF12 0 genome.wustl.edu 37 13 74387318 74387318 + Silent SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 13 74387318 74387318 C A SNP KLF12 ENST00000377666 human ensembl 74_37 -1 known silent c.777 p.T259 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors KLF12 HGNC ENSG00000118922 96 0 0 85 8 8.60215 CDC42BPB 0 genome.wustl.edu 37 14 103430926 103430926 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 14 103430926 103430926 T G SNP CDC42BPB ENST00000361246 human ensembl 74_37 -1 known missense c.2639 p.Q880P 1.000 pfam_Myotonic_dystrophy_kinase_coil pfam_Citron,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Myotonic_dystrophy_kinase_coil,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Pleckstrin_homology,smart_Citron,smart_CRIB_dom,pfscan_CRIB_dom,pfscan_Pleckstrin_homology,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_kinase_dom,prints_DAG/PE-bd - no_errors CDC42BPB HGNC ENSG00000198752 64 0 0 39 11 22 PSMB11 0 genome.wustl.edu 37 14 23512058 23512058 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 14 23512058 23512058 C T SNP PSMB11 ENST00000408907 human ensembl 74_37 +1 known silent c.624 p.A208 0.045 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB11 HGNC ENSG00000222028 64 0 0 63 5 7.35294 ARHGAP5 0 genome.wustl.edu 37 14 32559900 32559900 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 14 32559900 32559900 C T SNP ARHGAP5 ENST00000345122 human ensembl 74_37 +1 known missense c.25 p.R9C 1.000 superfamily_P-loop_NTPase pfam_RhoGAP_dom,pfam_FF_domain,pfam_Small_GTPase,superfamily_Rho_GTPase_activation_prot,superfamily_P-loop_NTPase,superfamily_FF_domain,smart_FF_domain,smart_RhoGAP_dom,pfscan_RhoGAP_dom,prints_Small_GTPase - no_errors ARHGAP5 HGNC ENSG00000100852 131 0 0 94 23 19.6581 SLC25A21 0 genome.wustl.edu 37 14 37180603 37180603 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 14 37180603 37180603 T C SNP SLC25A21 ENST00000331299 human ensembl 74_37 -1 known missense c.523 p.T175A 1.000 pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier,prints_Mit_carrier - no_errors SLC25A21 HGNC ENSG00000183032 84 0 0 69 12 14.8148 FANCM 0 genome.wustl.edu 37 14 45645883 45645883 + Missense_Mutation SNP A A T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 14 45645883 45645883 A T SNP FANCM ENST00000267430 human ensembl 74_37 +1 known missense c.3926 p.H1309L 0.001 NULL pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,superfamily_P-loop_NTPase,superfamily_Restrct_endonuc-II-like,superfamily_RuvA_2-like,smart_Helicase_ATP-bd,smart_Helicase_C,smart_ERCC4_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors FANCM HGNC ENSG00000187790 65 0 0 66 26 28.2609 MTHFD1 0 genome.wustl.edu 37 14 64891553 64891553 + Silent SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 14 64891553 64891553 G C SNP MTHFD1 ENST00000216605 human ensembl 74_37 +1 known silent c.759 p.V253 1.000 pfam_THF_DH/CycHdrlase_NAD-bd_dom,prints_THF_DH/CycHdrlase pfam_Formate_THF_ligase,pfam_THF_DH/CycHdrlase_NAD-bd_dom,pfam_THF_DH/CycHdrlase_cat_dom,superfamily_P-loop_NTPase,prints_THF_DH/CycHdrlase - no_errors MTHFD1 HGNC ENSG00000100714 47 0 0 33 5 13.1579 HSPA2 0 genome.wustl.edu 37 14 65008403 65008403 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 14 65008403 65008403 C T SNP HSPA2 ENST00000247207 human ensembl 74_37 +1 known missense c.836 p.S279L 1.000 pfam_Hsp_70_fam,pfam_MreB_Mrl pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam - no_errors HSPA2 HGNC ENSG00000126803 60 0 0 38 4 9.52381 PCNX 0 genome.wustl.edu 37 14 71444290 71444290 + Missense_Mutation SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 14 71444290 71444290 C A SNP PCNX ENST00000304743 human ensembl 74_37 +1 known missense c.1236 p.S412R 0.991 NULL pfam_Pecanex - no_errors PCNX HGNC ENSG00000100731 121 0 0 81 12 12.9032 ADCK1 0 genome.wustl.edu 37 14 78397959 78397959 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 14 78397959 78397959 C T SNP ADCK1 ENST00000238561 human ensembl 74_37 +1 known silent c.1305 p.N435 0.440 NULL pfam_UbiB_dom,pfam_Prot_kinase_dom,superfamily_Kinase-like_dom - no_errors ADCK1 HGNC ENSG00000063761 116 0 0 97 8 7.61905 NRXN3 0 genome.wustl.edu 37 14 79454401 79454401 + Missense_Mutation SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 14 79454401 79454401 A C SNP NRXN3 ENST00000554738 human ensembl 74_37 +1 known missense c.3146 p.N1049T 1.000 superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,pfscan_EG-like_dom pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Laminin_G - no_errors NRXN3 HGNC ENSG00000021645 94 0 0 59 13 18.0556 BCL11B 0 genome.wustl.edu 37 14 99641568 99641568 + Missense_Mutation SNP C C G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 14 99641568 99641568 C G SNP BCL11B ENST00000357195 human ensembl 74_37 -1 known missense c.1605 p.E535D 0.999 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 11 0 0 15 3 16.6667 BCL11B 0 genome.wustl.edu 37 14 99697808 99697808 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 14 99697808 99697808 G A SNP BCL11B ENST00000357195 human ensembl 74_37 -1 known missense c.514 p.R172C 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BCL11B HGNC ENSG00000127152 23 0 0 13 5 27.7778 LRRK1 0 genome.wustl.edu 37 15 101589894 101589894 + Silent SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 101589894 101589894 A G SNP LRRK1 ENST00000388948 human ensembl 74_37 +1 known silent c.3345 p.G1115 0.453 NULL pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Leu-rich_rpt,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,superfamily_Kinase-like_dom,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,superfamily_WD40_repeat_dom,smart_Ankyrin_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_dom - no_errors LRRK1 HGNC ENSG00000154237 94 0 0 79 14 15.0538 GOLGA6L2 0 genome.wustl.edu 37 15 23689096 23689096 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 23689096 23689096 T G SNP GOLGA6L2 ENST00000312015 human ensembl 74_37 -1 known missense c.419 p.N140T 0.000 NULL prints_Tropomyosin - no_errors GOLGA6L2 HGNC ENSG00000174450 9 0 0 12 3 20 TJP1 0 genome.wustl.edu 37 15 30010507 30010507 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 30010507 30010507 T G SNP TJP1 ENST00000346128 human ensembl 74_37 -1 known missense c.3839 p.E1280A 1.000 NULL pfam_PDZ,pfam_ZU5,pfam_GK/Ca_channel_bsu,pfam_SH3_2,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_SH3_domain,smart_PDZ,smart_GK/Ca_channel_bsu,smart_ZU5,pfscan_PDZ,pfscan_SH3_domain,pfscan_ZU5,pfscan_Guanylate_kin-like,prints_ZonOcculS1,prints_ZonOcculdens - no_errors TJP1 HGNC ENSG00000104067 106 0 0 70 10 12.5 ZSCAN29 0 genome.wustl.edu 37 15 43656386 43656386 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 43656386 43656386 G A SNP ZSCAN29 ENST00000396976 human ensembl 74_37 -1 known missense c.1417 p.R473W 1.000 NULL pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors ZSCAN29 HGNC ENSG00000140265 200 0 0 147 24 14.0351 TP53BP1 0 genome.wustl.edu 37 15 43707879 43707879 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 43707879 43707879 C T SNP TP53BP1 ENST00000382044 human ensembl 74_37 -1 known missense c.5002 p.V1668I 0.180 smart_BRCT_dom pfam_53-BP1_Tudor,superfamily_BRCT_dom,smart_BRCT_dom,pfscan_BRCT_dom - no_errors TP53BP1 HGNC ENSG00000067369 231 0 0 125 45 26.4706 CATSPER2 0 genome.wustl.edu 37 15 43932664 43932664 + Nonsense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 43932664 43932664 C T SNP CATSPER2 ENST00000321596 human ensembl 74_37 -1 known nonsense c.419 p.W140* 0.255 NULL pfam_Ion_trans_dom - no_errors CATSPER2 HGNC ENSG00000166762 150 0 0 109 11 9.16667 SEMA6D 0 genome.wustl.edu 37 15 48056479 48056479 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 48056479 48056479 C T SNP SEMA6D ENST00000316364 human ensembl 74_37 +1 known silent c.1074 p.P358 0.432 pfam_Semap_dom,superfamily_Semap_dom,smart_Semap_dom,pfscan_Semap_dom pfam_Semap_dom,pfam_Plexin_repeat,superfamily_Semap_dom,superfamily_Plexin-like_fold,smart_Semap_dom,smart_Plexin-like_fold,pfscan_Semap_dom - no_errors SEMA6D HGNC ENSG00000137872 118 1 0.840336 68 22 24.4444 SLC24A5 0 genome.wustl.edu 37 15 48429130 48429130 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 48429130 48429130 A G SNP SLC24A5 ENST00000341459 human ensembl 74_37 +1 known missense c.841 p.S281G 1.000 tigrfam_K/Na/Ca-exchanger pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger - no_errors SLC24A5 HGNC ENSG00000188467 135 0 0 92 20 17.8571 CEP152 0 genome.wustl.edu 37 15 49090149 49090149 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 49090149 49090149 C T SNP CEP152 ENST00000380950 human ensembl 74_37 -1 known missense c.187 p.G63R 0.000 NULL NULL - no_errors CEP152 HGNC ENSG00000103995 38 0 0 27 5 15.625 WDR72 0 genome.wustl.edu 37 15 53815467 53815467 + Silent SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 53815467 53815467 T C SNP WDR72 ENST00000360509 human ensembl 74_37 -1 known silent c.3201 p.Q1067 1.000 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDR72 HGNC ENSG00000166415 250 0 0 213 29 11.9835 BNIP2 0 genome.wustl.edu 37 15 59970273 59970273 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 59970273 59970273 T G SNP BNIP2 ENST00000267859 human ensembl 74_37 -1 known missense c.672 p.K224N 1.000 pfam_Bcl2-/adenovirus-E1B pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom - no_errors BNIP2 HGNC ENSG00000140299 42 0 0 39 7 15.2174 HERC1 0 genome.wustl.edu 37 15 63935637 63935637 + Missense_Mutation SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 63935637 63935637 C A SNP HERC1 ENST00000443617 human ensembl 74_37 -1 known missense c.11297 p.G3766V 1.000 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom pfam_Reg_chr_condens,pfam_HECT,pfam_WD40_repeat,pfam_SPRY_rcpt,superfamily_RCC1/BLIP-II,superfamily_HECT,superfamily_WD40_repeat_dom,superfamily_ConA-like_lec_gl_sf,superfamily_UBA-like,superfamily_ARM-type_fold,smart_SPla/RYanodine_receptor_subgr,smart_WD40_repeat,smart_HECT,pfscan_B30.2/SPRY,pfscan_HECT,pfscan_Reg_chr_condens,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_Reg_chr_condens - no_errors HERC1 HGNC ENSG00000103657 32 0 0 21 11 34.375 MYO9A 0 genome.wustl.edu 37 15 72338409 72338409 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 72338409 72338409 G A SNP MYO9A ENST00000424560 human ensembl 74_37 -1 known silent c.496 p.L166 1.000 pfam_Myosin_head_motor_dom,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom pfam_Myosin_head_motor_dom,pfam_RhoGAP_dom,pfam_Ras-assoc,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,superfamily_Rho_GTPase_activation_prot,smart_Ras-assoc,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_RhoGAP_dom,pfscan_IQ_motif_EF-hand-BS,pfscan_Ras-assoc,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RhoGAP_dom,prints_Myosin_head_motor_dom - no_errors MYO9A HGNC ENSG00000066933 116 1 0.854701 88 33 27.2727 SCAMP5 0 genome.wustl.edu 37 15 75308941 75308941 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 75308941 75308941 C T SNP SCAMP5 ENST00000562212 human ensembl 74_37 +1 known silent c.144 p.S48 1.000 pfam_SCAMP pfam_SCAMP - no_errors SCAMP5 HGNC ENSG00000198794 100 0 0 82 12 12.766 FSD2 0 genome.wustl.edu 37 15 83455853 83455853 + Missense_Mutation SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 83455853 83455853 C A SNP FSD2 ENST00000334574 human ensembl 74_37 -1 known missense c.290 p.R97I 0.000 NULL pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3,prints_Butyrophylin - no_errors FSD2 HGNC ENSG00000186628 156 0 0 140 14 9.09091 BNC1 0 genome.wustl.edu 37 15 83935597 83935597 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 15 83935597 83935597 G A SNP BNC1 ENST00000345382 human ensembl 74_37 -1 known silent c.426 p.Y142 0.046 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors BNC1 HGNC ENSG00000169594 161 0 0 122 21 14.6853 CACNA1H 0 genome.wustl.edu 37 16 1261575 1261575 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 16 1261575 1261575 G A SNP CACNA1H ENST00000348261 human ensembl 74_37 +1 known missense c.4445 p.R1482Q 0.995 pfam_Ion_trans_dom pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_PKD_2 - no_errors CACNA1H HGNC ENSG00000196557 39 0 0 24 9 27.2727 TSC2 0 genome.wustl.edu 37 16 2106756 2106756 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 16 2106756 2106756 G A SNP TSC2 ENST00000219476 human ensembl 74_37 +1 known missense c.760 p.E254K 1.000 pfam_Tuberin_N,superfamily_ARM-type_fold pfam_Tuberin-type_domain,pfam_Tuberin_N,pfam_Rap_GAP_dom,superfamily_ARM-type_fold,pfscan_Rap_GAP_dom,prints_Tuberin - no_errors TSC2 HGNC ENSG00000103197 188 0 0 116 42 26.5823 ITGAM 0 genome.wustl.edu 37 16 31283265 31283265 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 16 31283265 31283265 C T SNP ITGAM ENST00000544665 human ensembl 74_37 +1 known missense c.656 p.T219M 0.000 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Integrin_alpha-2,pfam_VWF_A,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,smart_VWF_A,pfscan_VWF_A,prints_Integrin_alpha - no_errors ITGAM HGNC ENSG00000169896 112 0 0 81 11 11.9565 NLRC3 0 genome.wustl.edu 37 16 3592702 3592702 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 16 3592702 3592702 G A SNP NLRC3 ENST00000448023 human ensembl 74_37 -1 known missense c.3151 p.R1051W 0.996 smart_Leu-rich_rpt_RNase_inh_sub-typ superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase - no_errors NLRC3 HGNC ENSG00000167984 18 0 0 9 7 43.75 ABCC11 0 genome.wustl.edu 37 16 48234312 48234312 + Nonsense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 16 48234312 48234312 G A SNP ABCC11 ENST00000356608 human ensembl 74_37 -1 known nonsense c.1957 p.Q653* 0.832 pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,superfamily_P-loop_NTPase,superfamily_ABC1_TM_dom,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC1_TM_dom - no_errors ABCC11 HGNC ENSG00000121270 94 0 0 76 4 5 CDH8 0 genome.wustl.edu 37 16 61935343 61935343 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 16 61935343 61935343 A G SNP CDH8 ENST00000577390 human ensembl 74_37 -1 known missense c.287 p.I96T 1.000 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors CDH8 HGNC ENSG00000150394 80 0 0 74 10 11.9048 PHLPP2 0 genome.wustl.edu 37 16 71736549 71736549 + Nonsense_Mutation SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 16 71736549 71736549 C A SNP PHLPP2 ENST00000356272 human ensembl 74_37 -1 known nonsense c.370 p.E124* 1.000 NULL pfam_PP2C-like_dom,pfam_Leu-rich_rpt,superfamily_PP2C-like_dom,smart_Leu-rich_rpt_typical-subtyp,smart_PP2C-like_dom - no_errors PHLPP2 HGNC ENSG00000040199 134 0 0 79 22 21.7822 ZNF276 0 genome.wustl.edu 37 16 89804288 89804288 + Nonsense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 16 89804288 89804288 C T SNP ZNF276 ENST00000443381 human ensembl 74_37 +1 known nonsense c.1549 p.R517* 1.000 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_AD,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF276 HGNC ENSG00000158805 130 0 0 80 13 13.9785 MYO1C 0 genome.wustl.edu 37 17 1371342 1371342 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 17 1371342 1371342 C T SNP MYO1C ENST00000359786 human ensembl 74_37 -1 known missense c.2836 p.A946T 0.176 pfam_Myosin_tail_2 pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,superfamily_P-loop_NTPase,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom - no_errors MYO1C HGNC ENSG00000197879 114 1 0.869565 47 31 39.7436 SCARF1 0 genome.wustl.edu 37 17 1538829 1538829 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 17 1538829 1538829 C T SNP SCARF1 ENST00000571272 human ensembl 74_37 -1 known missense c.1679 p.R560H 0.547 NULL pfam_EGF_laminin,pfam_EGF_extracell,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom - no_errors SCARF1 HGNC ENSG00000074660 134 0 0 98 14 12.5 CCDC144A 0 genome.wustl.edu 37 17 16593937 16593937 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 17 16593937 16593937 G A SNP CCDC144A ENST00000360524 human ensembl 74_37 +1 known missense c.223 p.D75N 0.002 NULL pfam_DUF3496 - no_errors CCDC144A HGNC ENSG00000170160 241 0 0 127 103 44.7826 TRPV3 0 genome.wustl.edu 37 17 3436156 3436156 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 17 3436156 3436156 G A SNP TRPV3 ENST00000301365 human ensembl 74_37 -1 known missense c.860 p.T287M 0.998 superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel - no_errors TRPV3 HGNC ENSG00000167723 82 0 0 32 25 43.8596 GPR179 0 genome.wustl.edu 37 17 36483371 36483371 + Silent SNP G G T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 17 36483371 36483371 G T SNP GPR179 ENST00000342292 human ensembl 74_37 -1 known silent c.6081 p.I2027 0.000 NULL pfam_GPCR_3_C,superfamily_Growth_fac_rcpt_N_dom,pfscan_GPCR_3_C - no_errors GPR179 HGNC ENSG00000188888 147 0 0 72 56 43.75 MLLT6 0 genome.wustl.edu 37 17 36881037 36881037 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 17 36881037 36881037 G A SNP MLLT6 ENST00000325718 human ensembl 74_37 +1 known silent c.3048 p.A1016 0.740 NULL superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger - no_errors MLLT6 HGNC ENSG00000108292 21 0 0 18 5 21.7391 ITGA2B 0 genome.wustl.edu 37 17 42457115 42457115 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 17 42457115 42457115 G A SNP ITGA2B ENST00000262407 human ensembl 74_37 -1 known missense c.1820 p.T607M 0.031 pfam_Integrin_alpha-2 pfam_Integrin_alpha-2,pfam_FG-GAP,pfam_Integrin_alpha_C_CS,smart_Int_alpha_beta-p,prints_Integrin_alpha - no_errors ITGA2B HGNC ENSG00000005961 189 0 0 95 57 37.5 TANC2 0 genome.wustl.edu 37 17 61497971 61497971 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 17 61497971 61497971 G A SNP TANC2 ENST00000424789 human ensembl 74_37 +1 known missense c.4628 p.R1543Q 1.000 NULL pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_P-loop_NTPase,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt - no_errors TANC2 HGNC ENSG00000170921 50 0 0 21 23 52.2727 GPR142 0 genome.wustl.edu 37 17 72368351 72368351 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 17 72368351 72368351 C T SNP GPR142 ENST00000335666 human ensembl 74_37 +1 known missense c.1001 p.S334L 0.972 pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn - no_errors GPR142 HGNC ENSG00000257008 75 0 0 25 20 44.4444 CCDC42 0 genome.wustl.edu 37 17 8644967 8644967 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 17 8644967 8644967 C T SNP CCDC42 ENST00000293845 human ensembl 74_37 -1 known missense c.317 p.R106H 0.980 NULL NULL - no_errors CCDC42 HGNC ENSG00000161973 63 0 0 39 18 31.5789 NPC1 0 genome.wustl.edu 37 18 21136494 21136494 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 18 21136494 21136494 C T SNP NPC1 ENST00000269228 human ensembl 74_37 -1 known missense c.1039 p.V347I 1.000 tigrfam_NP_C_type pfam_Patched,pfam_MMPL_dom,pfscan_SSD,tigrfam_NP_C_type - no_errors NPC1 HGNC ENSG00000141458 75 0 0 90 7 7.21649 DCC 0 genome.wustl.edu 37 18 50976977 50976977 + Missense_Mutation SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 18 50976977 50976977 G C SNP DCC ENST00000442544 human ensembl 74_37 +1 known missense c.3337 p.V1113L 1.000 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 88 0 0 37 12 24.4898 DCC 0 genome.wustl.edu 37 18 51013195 51013195 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 18 51013195 51013195 G A SNP DCC ENST00000442544 human ensembl 74_37 +1 known silent c.3765 p.T1255 0.935 pfam_Neogenin_C pfam_Neogenin_C,pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors DCC HGNC ENSG00000187323 135 0 0 99 28 22.0472 SLC44A2 0 genome.wustl.edu 37 19 10747210 10747210 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 10747210 10747210 C T SNP SLC44A2 ENST00000335757 human ensembl 74_37 +1 known missense c.1445 p.P482L 1.000 pfam_Choline_transptr-like pfam_Choline_transptr-like - no_errors SLC44A2 HGNC ENSG00000129353 111 0 0 69 25 26.5957 SLC5A5 0 genome.wustl.edu 37 19 18001748 18001748 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 18001748 18001748 C T SNP SLC5A5 ENST00000222248 human ensembl 74_37 +1 known missense c.1705 p.R569W 0.003 NULL pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr - no_errors SLC5A5 HGNC ENSG00000105641 219 0 0 119 59 33.1461 ELL 0 genome.wustl.edu 37 19 18561591 18561591 + Silent SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 18561591 18561591 C A SNP ELL ENST00000262809 human ensembl 74_37 -1 known silent c.1161 p.R387 0.004 NULL pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL - no_errors ELL HGNC ENSG00000105656 26 0 0 8 4 33.3333 ZNF99 0 genome.wustl.edu 37 19 22952090 22952090 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 22952090 22952090 C T SNP ZNF99 ENST00000397104 human ensembl 74_37 -1 known missense c.103 p.A35T 0.005 pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF99 HGNC ENSG00000213973 124 0 0 84 24 22.2222 GAPDHS 0 genome.wustl.edu 37 19 36029512 36029512 + Nonsense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 36029512 36029512 C T SNP GAPDHS ENST00000222286 human ensembl 74_37 +1 known nonsense c.376 p.R126* 0.949 pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,tigrfam_Glyceraldehyde-3-P_DH_1 pirsf_GlycerAld/Erythrose_P_DH,pfam_GlycerAld_3-P_DH_cat,pfam_GlycerAld_3-P_DH_NAD(P)-bd,smart_GlycerAld_3-P_DH_NAD(P)-bd,prints_GlycerAld/Erythrose_P_DH,tigrfam_Glyceraldehyde-3-P_DH_1 - no_errors GAPDHS HGNC ENSG00000105679 58 0 0 40 3 6.97674 RASGRP4 0 genome.wustl.edu 37 19 38905604 38905604 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 38905604 38905604 C T SNP RASGRP4 ENST00000587738 human ensembl 74_37 -1 known missense c.1114 p.G372S 1.000 pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,pfscan_RasGRF_CDC25 pfam_RasGRF_CDC25,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ras_GEF_dom,smart_RasGRF_CDC25,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_EF_hand_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,pfscan_RasGRF_CDC25,pfscan_Ras-like_Gua-exchang_fac_N,prints_DAG/PE-bd - no_errors RASGRP4 HGNC ENSG00000171777 40 0 0 23 8 25.8065 MAP4K1 0 genome.wustl.edu 37 19 39088187 39088187 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 39088187 39088187 G A SNP MAP4K1 ENST00000591517 human ensembl 74_37 -1 known missense c.1717 p.R573W 0.996 pfam_Citron,smart_Citron pfam_Prot_kinase_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors MAP4K1 HGNC ENSG00000104814 107 0 0 75 35 31.8182 RELB 0 genome.wustl.edu 37 19 45515504 45515504 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 45515504 45515504 C T SNP RELB ENST00000221452 human ensembl 74_37 +1 known silent c.474 p.T158 0.269 pfam_RHD,superfamily_p53-like_TF_DNA-bd,pfscan_RHD pfam_RHD,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NF_Rel_Dor - no_errors RELB HGNC ENSG00000104856 22 0 0 23 3 11.5385 PPFIA3 0 genome.wustl.edu 37 19 49633794 49633794 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 49633794 49633794 G A SNP PPFIA3 ENST00000334186 human ensembl 74_37 +1 known missense c.817 p.A273T 1.000 NULL pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM - no_errors PPFIA3 HGNC ENSG00000177380 17 0 0 12 3 20 PTPRS 0 genome.wustl.edu 37 19 5223252 5223252 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 5223252 5223252 G A SNP PTPRS ENST00000372412 human ensembl 74_37 -1 known missense c.2554 p.R852C 0.954 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like_dom - no_errors PTPRS HGNC ENSG00000105426 9 0 0 11 4 26.6667 ZNF320 0 genome.wustl.edu 37 19 53384561 53384561 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 53384561 53384561 T C SNP ZNF320 ENST00000391781 human ensembl 74_37 -1 known missense c.818 p.Y273C 0.278 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF320 HGNC ENSG00000182986 187 1 0.531915 147 18 10.9091 GP6 0 genome.wustl.edu 37 19 55549586 55549586 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 55549586 55549586 C T SNP GP6 ENST00000310373 human ensembl 74_37 -1 known missense c.19 p.A7T 0.000 NULL smart_Ig_sub,smart_Ig_sub2 - no_errors GP6 HGNC ENSG00000088053 11 0 0 14 5 26.3158 PEG3 0 genome.wustl.edu 37 19 57326025 57326025 + Missense_Mutation SNP G G T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 57326025 57326025 G T SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known missense c.3785 p.A1262D 0.000 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 74 0 0 49 11 18.3333 PEG3 0 genome.wustl.edu 37 19 57327776 57327776 + Silent SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 57327776 57327776 A G SNP PEG3 ENST00000326441 human ensembl 74_37 -1 known silent c.2034 p.T678 0.240 NULL pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN - no_errors PEG3 HGNC ENSG00000198300 190 0 0 150 17 10.1796 ZNF551 0 genome.wustl.edu 37 19 58198355 58198355 + Missense_Mutation SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 19 58198355 58198355 C A SNP ZNF551 ENST00000282296 human ensembl 74_37 +1 known missense c.712 p.L238I 0.001 NULL pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF551 HGNC ENSG00000204519 138 0 0 136 16 10.5263 ZC3H8 0 genome.wustl.edu 37 2 113012503 113012503 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 113012503 113012503 G A SNP ZC3H8 ENST00000272570 human ensembl 74_37 -1 known missense c.56 p.A19V 0.015 NULL pfam_Znf_CCCH,smart_Znf_CCCH - no_errors ZC3H8 HGNC ENSG00000144161 36 0 0 34 19 35.8491 SAP130 0 genome.wustl.edu 37 2 128712790 128712790 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 128712790 128712790 G A SNP SAP130 ENST00000357702 human ensembl 74_37 -1 known missense c.2270 p.P757L 0.993 NULL NULL - no_errors SAP130 HGNC ENSG00000136715 157 0 0 95 17 15.1786 NEB 0 genome.wustl.edu 37 2 152534502 152534502 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 152534502 152534502 G A SNP NEB ENST00000397345 human ensembl 74_37 -1 known missense c.3455 p.A1152V 1.000 smart_Nebulin_35r-motif pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,superfamily_Adhesion_dom,superfamily_6-PGluconate_DH_C-like,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_Nebulin - no_errors NEB HGNC ENSG00000183091 64 0 0 55 5 8.33333 BAZ2B 0 genome.wustl.edu 37 2 160289338 160289338 + Missense_Mutation SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 160289338 160289338 A C SNP BAZ2B ENST00000392783 human ensembl 74_37 -1 known missense c.1830 p.D610E 1.000 NULL pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_dom,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain - no_errors BAZ2B HGNC ENSG00000123636 90 0 0 59 10 14.4928 SCN7A 0 genome.wustl.edu 37 2 167301492 167301492 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 167301492 167301492 T G SNP SCN7A ENST00000409855 human ensembl 74_37 -1 known missense c.1406 p.K469T 0.023 NULL pfam_Ion_trans_dom,pfam_Na_trans_assoc,prints_Na_channel_asu - no_errors SCN7A HGNC ENSG00000136546 32 0 0 26 8 23.5294 TTN 0 genome.wustl.edu 37 2 179399663 179399663 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 179399663 179399663 C T SNP TTN ENST00000342992 human ensembl 74_37 -1 known silent c.93975 p.E31325 0.998 pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 66 0 0 34 28 45.1613 TTN 0 genome.wustl.edu 37 2 179409019 179409019 + Missense_Mutation SNP C C G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 179409019 179409019 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.88233 p.Q29411H 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 83 0 0 43 24 35.8209 TTN 0 genome.wustl.edu 37 2 179482952 179482952 + Missense_Mutation SNP C C G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 179482952 179482952 C G SNP TTN ENST00000342992 human ensembl 74_37 -1 known missense c.39529 p.E13177Q 1.000 superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors TTN HGNC ENSG00000155657 182 0 0 161 28 14.8148 TYW5 0 genome.wustl.edu 37 2 200797906 200797906 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 200797906 200797906 T G SNP TYW5 ENST00000354611 human ensembl 74_37 -1 known missense c.832 p.I278L 1.000 NULL pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom - no_errors TYW5 HGNC ENSG00000162971 175 0 0 223 24 9.7166 ADAM23 0 genome.wustl.edu 37 2 207424843 207424843 + Splice_Site SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 207424843 207424843 G A SNP ADAM23 ENST00000264377 human ensembl 74_37 +1 known splice_site c.1169+1 e11+1 1.000 - - - no_errors ADAM23 HGNC ENSG00000114948 48 0 0 47 15 24.1935 ADAM23 0 genome.wustl.edu 37 2 207460850 207460850 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 207460850 207460850 A G SNP ADAM23 ENST00000264377 human ensembl 74_37 +1 known missense c.2323 p.R775G 0.989 NULL pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_EG-like_dom,pfscan_Peptidase_M12B - no_errors ADAM23 HGNC ENSG00000114948 56 0 0 52 7 11.8644 CRYGA 0 genome.wustl.edu 37 2 209028005 209028005 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 209028005 209028005 G A SNP CRYGA ENST00000304502 human ensembl 74_37 -1 known missense c.175 p.R59C 0.370 pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin pfam_Beta/gamma_crystallin,superfamily_G_crystallin-rel,smart_Beta/gamma_crystallin,pfscan_Beta/gamma_crystallin,prints_Beta/gamma_crystallin - no_errors CRYGA HGNC ENSG00000168582 87 0 0 159 17 9.65909 FN1 0 genome.wustl.edu 37 2 216243984 216243984 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 216243984 216243984 C T SNP FN1 ENST00000354785 human ensembl 74_37 -1 known missense c.5491 p.A1831T 0.181 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,pfam_Fibronectin_type1,pfam_FN_type2_col-bd,superfamily_Kringle-like,superfamily_Fibronectin_type3,smart_Fibronectin_type1,smart_FN_type2_col-bd,smart_Fibronectin_type3,pfscan_Fibronectin_type1,pfscan_FN_type2_col-bd,pfscan_Fibronectin_type3 - no_errors FN1 HGNC ENSG00000115414 103 1 0.961538 89 15 14.4231 SPEG 0 genome.wustl.edu 37 2 220309612 220309612 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 220309612 220309612 G A SNP SPEG ENST00000312358 human ensembl 74_37 +1 novel missense c.544 p.E182K 0.998 NULL pfam_Ig_I-set,pfam_Prot_kinase_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_dom,pfscan_Ig-like_dom - no_errors SPEG HGNC ENSG00000072195 170 0 0 110 31 21.9858 SP110 0 genome.wustl.edu 37 2 231077540 231077540 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 231077540 231077540 C T SNP SP110 ENST00000258381 human ensembl 74_37 -1 known silent c.519 p.S173 0.000 NULL pfam_Sp100,pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_SAND_dom,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_PHD-finger,pfscan_SAND_dom - no_errors SP110 HGNC ENSG00000135899 219 0 0 146 54 27 ANKMY1 0 genome.wustl.edu 37 2 241494402 241494402 + Nonsense_Mutation SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 241494402 241494402 C A SNP ANKMY1 ENST00000361678 human ensembl 74_37 -1 known nonsense c.217 p.E73* 0.038 NULL pfam_MORN,pfam_Znf_MYND,superfamily_Ankyrin_rpt-contain_dom,smart_MORN,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Znf_MYND - no_errors ANKMY1 HGNC ENSG00000144504 273 0 0 173 66 27.6151 XDH 0 genome.wustl.edu 37 2 31625932 31625932 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 31625932 31625932 C T SNP XDH ENST00000379416 human ensembl 74_37 -1 known missense c.179 p.R60H 0.000 pfam_2Fe-2S_ferredoxin-type,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu pfam_AldOxase/xan_DH_Mopterin-bd,pfam_Mopterin_DH_FAD-bd,pfam_Ald_Oxase/Xan_DH_a/b,pfam_2Fe-2S-bd,pfam_CO_DH_flav_C,pfam_2Fe-2S_ferredoxin-type,superfamily_AldOxase/xan_DH_Mopterin-bd,superfamily_FAD-bd_2,superfamily_Ald_Oxase/Xan_DH_a/b,superfamily_2Fe-2S-bd,superfamily_CO_DH_flav_C,superfamily_2Fe-2S_ferredoxin-type,pirsf_Ald_Oxase/xanthine_DH,pfscan_2Fe-2S_ferredoxin-type,tigrfam_Xanthine_DH_ssu - no_errors XDH HGNC ENSG00000158125 159 0 0 102 16 13.5593 CTNNA2 0 genome.wustl.edu 37 2 80085199 80085199 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 80085199 80085199 G A SNP CTNNA2 ENST00000361291 human ensembl 74_37 +1 known missense c.461 p.R154H 1.000 pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Alpha_catenin,prints_Vinculin - no_errors CTNNA2 HGNC ENSG00000066032 163 0 0 130 13 9.09091 LRRTM1 0 genome.wustl.edu 37 2 80530256 80530256 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 80530256 80530256 G A SNP LRRTM1 ENST00000295057 human ensembl 74_37 -1 known missense c.689 p.P230L 1.000 NULL pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp - no_errors LRRTM1 HGNC ENSG00000162951 208 0 0 133 19 12.5 ASAP2 0 genome.wustl.edu 37 2 9515045 9515045 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 9515045 9515045 C T SNP ASAP2 ENST00000281419 human ensembl 74_37 +1 known missense c.1718 p.T573M 0.993 superfamily_Ankyrin_rpt-contain_dom pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP - no_errors ASAP2 HGNC ENSG00000151693 119 0 0 93 16 14.6789 PDYN 0 genome.wustl.edu 37 20 1961099 1961099 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 20 1961099 1961099 C T SNP PDYN ENST00000217305 human ensembl 74_37 -1 known missense c.635 p.R212Q 1.000 prints_Proenkphlin_B pfam_Opioid_neupept,prints_Proenkphlin_B,prints_Opioid_neupept - no_errors PDYN HGNC ENSG00000101327 236 0 0 219 47 17.6692 C20orf26 0 genome.wustl.edu 37 20 20278996 20278996 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 20 20278996 20278996 C T SNP C20orf26 ENST00000245957 human ensembl 74_37 +1 known missense c.3388 p.R1130W 0.998 NULL superfamily_Acyl_CoA_acyltransferase - no_errors C20orf26 HGNC ENSG00000089101 50 0 0 27 31 53.4483 TRPC4AP 0 genome.wustl.edu 37 20 33637793 33637793 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 20 33637793 33637793 T C SNP TRPC4AP ENST00000252015 human ensembl 74_37 -1 known missense c.533 p.E178G 1.000 NULL pfam_DUF3689 - no_errors TRPC4AP HGNC ENSG00000100991 85 0 0 110 33 23.0769 SOGA1 0 genome.wustl.edu 37 20 35444681 35444681 + Missense_Mutation SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 20 35444681 35444681 C A SNP SOGA1 ENST00000237536 human ensembl 74_37 -1 known missense c.1164 p.L388F 1.000 pfam_SOGA pfam_SOGA - no_errors SOGA1 HGNC ENSG00000149639 109 0 0 82 67 44.9664 IFT52 0 genome.wustl.edu 37 20 42264652 42264652 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 20 42264652 42264652 C T SNP IFT52 ENST00000373030 human ensembl 74_37 +1 known missense c.1010 p.A337V 1.000 NULL pfam_ABC_transp_unknown - no_errors IFT52 HGNC ENSG00000101052 72 0 0 61 44 41.9048 KCNG1 0 genome.wustl.edu 37 20 49626318 49626318 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 20 49626318 49626318 G A SNP KCNG1 ENST00000371571 human ensembl 74_37 -1 known silent c.558 p.D186 0.726 NULL pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv6,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3 - no_errors KCNG1 HGNC ENSG00000026559 98 0 0 131 11 7.74648 NFATC2 0 genome.wustl.edu 37 20 50140551 50140551 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 20 50140551 50140551 T C SNP NFATC2 ENST00000396009 human ensembl 74_37 -1 known missense c.229 p.S77G 1.000 NULL pfam_RHD,pfam_IPT,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT,pfscan_RHD,prints_NFAT - no_errors NFATC2 HGNC ENSG00000101096 150 0 0 143 42 22.7027 TSHZ2 0 genome.wustl.edu 37 20 51872386 51872386 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 20 51872386 51872386 G A SNP TSHZ2 ENST00000371497 human ensembl 74_37 +1 known missense c.2389 p.D797N 1.000 NULL superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2 - no_errors TSHZ2 HGNC ENSG00000182463 177 0 0 199 42 17.4274 GMEB2 0 genome.wustl.edu 37 20 62223462 62223462 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 20 62223462 62223462 C T SNP GMEB2 ENST00000266068 human ensembl 74_37 -1 known missense c.865 p.G289S 1.000 superfamily_Sig_transdc_His_kin_Hpt_dom pfam_SAND_dom,superfamily_SAND_dom-like,superfamily_Sig_transdc_His_kin_Hpt_dom,smart_SAND_dom,pfscan_SAND_dom - no_errors GMEB2 HGNC ENSG00000101216 127 0 0 170 10 5.55556 ABHD16B 0 genome.wustl.edu 37 20 62493575 62493575 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 20 62493575 62493575 G A SNP ABHD16B ENST00000369916 human ensembl 74_37 +1 known missense c.682 p.E228K 0.997 pfam_AB_hydrolase_1 pfam_AB_hydrolase_1 - no_errors ABHD16B HGNC ENSG00000183260 39 0 0 38 26 40.625 UCKL1 0 genome.wustl.edu 37 20 62571777 62571777 + Missense_Mutation SNP G G T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 20 62571777 62571777 G T SNP UCKL1 ENST00000354216 human ensembl 74_37 -1 known missense c.1364 p.T455N 1.000 NULL pfam_PRK/URK,pfam_CPT,superfamily_P-loop_NTPase,prints_Uridine_kinase,prints_PRK,tigrfam_Uridine_kinase - no_errors UCKL1 HGNC ENSG00000198276 51 0 0 61 5 7.57576 ZNRF3 0 genome.wustl.edu 37 22 29446820 29446820 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 22 29446820 29446820 C T SNP ZNRF3 ENST00000544604 human ensembl 74_37 +1 known missense c.2651 p.A884V 0.149 NULL pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING - no_errors ZNRF3 HGNC ENSG00000183579 32 0 0 28 7 20 ACR 0 genome.wustl.edu 37 22 51178361 51178361 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 22 51178361 51178361 C T SNP ACR ENST00000216139 human ensembl 74_37 +1 known missense c.521 p.S174F 0.059 pirsf_Pept_S1A_acrosin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1 pirsf_Pept_S1A_acrosin,pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,prints_Peptidase_S1A,pfscan_Peptidase_S1 - no_errors ACR HGNC ENSG00000100312 143 0 0 98 21 17.6471 PPP2R3A 0 genome.wustl.edu 37 3 135721796 135721796 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 135721796 135721796 A G SNP PPP2R3A ENST00000264977 human ensembl 74_37 +1 known missense c.1456 p.K486E 0.003 NULL pfscan_EF_hand_dom - no_errors PPP2R3A HGNC ENSG00000073711 92 0 0 103 14 11.9658 CNTN6 0 genome.wustl.edu 37 3 1425012 1425012 + Missense_Mutation SNP A A T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 1425012 1425012 A T SNP CNTN6 ENST00000350110 human ensembl 74_37 +1 known missense c.2437 p.S813C 1.000 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CNTN6 HGNC ENSG00000134115 282 0 0 138 80 36.6972 IGSF10 0 genome.wustl.edu 37 3 151165455 151165455 + Nonsense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 151165455 151165455 G A SNP IGSF10 ENST00000282466 human ensembl 74_37 -1 known nonsense c.2314 p.R772* 0.001 NULL pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom - no_errors IGSF10 HGNC ENSG00000152580 103 0 0 56 42 42.8571 FNDC3B 0 genome.wustl.edu 37 3 172061938 172061938 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 172061938 172061938 G A SNP FNDC3B ENST00000336824 human ensembl 74_37 +1 known missense c.2140 p.E714K 0.918 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3 - no_errors FNDC3B HGNC ENSG00000075420 207 0 0 175 20 10.2564 ABCF3 0 genome.wustl.edu 37 3 183906155 183906155 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 183906155 183906155 C T SNP ABCF3 ENST00000429586 human ensembl 74_37 +1 known missense c.796 p.R266W 0.386 superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like - no_errors ABCF3 HGNC ENSG00000161204 201 0 0 157 46 22.6601 ST6GAL1 0 genome.wustl.edu 37 3 186761057 186761057 + Nonsense_Mutation SNP C C G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 186761057 186761057 C G SNP ST6GAL1 ENST00000169298 human ensembl 74_37 +1 known nonsense c.566 p.S189* 0.984 pfam_Glyco_trans_29,pirsf_Sialyl_trans pfam_Glyco_trans_29,pirsf_Sialyl_trans - no_errors ST6GAL1 HGNC ENSG00000073849 215 0 0 184 39 17.4888 AZI2 0 genome.wustl.edu 37 3 28368376 28368376 + Missense_Mutation SNP T T A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 28368376 28368376 T A SNP AZI2 ENST00000479665 human ensembl 74_37 -1 known missense c.713 p.Q238L 1.000 NULL NULL - no_errors AZI2 HGNC ENSG00000163512 126 0 0 88 10 10.2041 MYRIP 0 genome.wustl.edu 37 3 40231684 40231684 + Missense_Mutation SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 40231684 40231684 A C SNP MYRIP ENST00000302541 human ensembl 74_37 +1 known missense c.1395 p.E465D 0.076 pfam_Myrip/Melanophilin pfam_Myrip/Melanophilin,superfamily_Znf_FYVE_PHD,pfscan_Znf_FYVE-typ - no_errors MYRIP HGNC ENSG00000170011 109 1 0.909091 63 45 41.6667 CHL1 0 genome.wustl.edu 37 3 443365 443365 + Missense_Mutation SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 443365 443365 A C SNP CHL1 ENST00000256509 human ensembl 74_37 +1 known missense c.3442 p.T1148P 1.000 NULL pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors CHL1 HGNC ENSG00000134121 76 0 0 47 9 16.0714 ZNF501 0 genome.wustl.edu 37 3 44775970 44775970 + Missense_Mutation SNP G G T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 44775970 44775970 G T SNP ZNF501 ENST00000396048 human ensembl 74_37 +1 known missense c.57 p.K19N 1.000 NULL pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZNF501 HGNC ENSG00000186446 89 0 0 69 12 14.8148 HYAL2 0 genome.wustl.edu 37 3 50355686 50355686 + Silent SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 50355686 50355686 G C SNP HYAL2 ENST00000357750 human ensembl 74_37 -1 known silent c.1296 p.G432 1.000 pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL2 HGNC ENSG00000068001 94 0 0 64 9 12.3288 HYAL2 0 genome.wustl.edu 37 3 50357644 50357644 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 50357644 50357644 C T SNP HYAL2 ENST00000357750 human ensembl 74_37 -1 known missense c.277 p.G93R 0.000 pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Hyaluronidase - no_errors HYAL2 HGNC ENSG00000068001 109 0 0 42 39 48.1481 NISCH 0 genome.wustl.edu 37 3 52526263 52526263 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 52526263 52526263 C T SNP NISCH ENST00000345716 human ensembl 74_37 +1 known missense c.4280 p.P1427L 1.000 NULL pfam_Phox,pfam_Leu-rich_rpt,superfamily_Phox,smart_Phox,pfscan_Phox - no_errors NISCH HGNC ENSG00000010322 314 0 0 186 66 26.1905 MAGI1 0 genome.wustl.edu 37 3 65464281 65464281 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 65464281 65464281 T C SNP MAGI1 ENST00000402939 human ensembl 74_37 -1 known missense c.743 p.N248S 1.000 smart_GK/Ca_channel_bsu pfam_PDZ,pfam_WW_dom,pfam_GK/Ca_channel_bsu,superfamily_PDZ,superfamily_P-loop_NTPase,superfamily_WW_dom,smart_PDZ,smart_GK/Ca_channel_bsu,smart_WW_dom,pfscan_PDZ,pfscan_WW_dom,pfscan_Guanylate_kin-like - no_errors MAGI1 HGNC ENSG00000151276 159 0 0 86 56 39.4366 PROS1 0 genome.wustl.edu 37 3 93595984 93595984 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 93595984 93595984 T C SNP PROS1 ENST00000394236 human ensembl 74_37 -1 known missense c.1696 p.S566G 0.005 pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G pfam_Laminin_G,pfam_EGF-like_Ca-bd_dom,pfam_GLA_domain,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,smart_Laminin_G,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Laminin_G,prints_GLA_domain - no_errors PROS1 HGNC ENSG00000184500 67 0 0 46 47 50.5376 EPHA6 0 genome.wustl.edu 37 3 96706401 96706401 + Silent SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 3 96706401 96706401 A C SNP EPHA6 ENST00000389672 human ensembl 74_37 +1 known silent c.678 p.S226 0.892 pfam_Ephrin_rcpt_lig-bd_dom,superfamily_Galactose-bd-like,smart_Ephrin_rcpt_lig-bd_dom pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom,prints_Ser-Thr/Tyr_kinase_cat_dom - no_errors EPHA6 HGNC ENSG00000080224 264 0 0 161 102 38.7833 FGFRL1 0 genome.wustl.edu 37 4 1017851 1017851 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 1017851 1017851 C T SNP FGFRL1 ENST00000264748 human ensembl 74_37 +1 known missense c.680 p.A227V 0.209 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom - no_errors FGFRL1 HGNC ENSG00000127418 25 0 0 15 7 31.8182 SPON2 0 genome.wustl.edu 37 4 1164265 1164265 + Missense_Mutation SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 1164265 1164265 G C SNP SPON2 ENST00000290902 human ensembl 74_37 -1 known missense c.736 p.Q246E 0.047 NULL pfam_Spondin_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Spondin_N,pfscan_Thrombospondin_1_rpt - no_errors SPON2 HGNC ENSG00000159674 168 0 0 121 41 25.3086 NDST3 0 genome.wustl.edu 37 4 119035974 119035974 + Missense_Mutation SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 119035974 119035974 A C SNP NDST3 ENST00000296499 human ensembl 74_37 +1 known missense c.1083 p.E361D 1.000 pfam_Heparan_SO4_deacetylase pfam_Heparan_SO4_deacetylase,pfam_Sulfotransferase_dom,superfamily_P-loop_NTPase - no_errors NDST3 HGNC ENSG00000164100 92 0 0 53 8 13.1148 USP53 0 genome.wustl.edu 37 4 120213587 120213587 + Missense_Mutation SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 120213587 120213587 G C SNP USP53 ENST00000274030 human ensembl 74_37 +1 known missense c.2443 p.D815H 0.009 NULL pfam_Peptidase_C19/C67,pfscan_Peptidase_C19/C67 - no_errors USP53 HGNC ENSG00000145390 96 0 0 47 5 9.61538 TNIP3 0 genome.wustl.edu 37 4 122075740 122075740 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 122075740 122075740 T G SNP TNIP3 ENST00000057513 human ensembl 74_37 -1 known missense c.458 p.E153A 0.996 NULL NULL - no_errors TNIP3 HGNC ENSG00000050730 118 0 0 76 18 19.1489 QRFPR 0 genome.wustl.edu 37 4 122301574 122301574 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 122301574 122301574 G A SNP QRFPR ENST00000394427 human ensembl 74_37 -1 known missense c.229 p.R77C 1.000 pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_NPY_rcpt pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_NPY_rcpt,prints_NPFF_rcpt - no_errors QRFPR HGNC ENSG00000186867 121 0 0 72 21 22.5806 SMAD1 0 genome.wustl.edu 37 4 146468031 146468031 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 146468031 146468031 A G SNP SMAD1 ENST00000302085 human ensembl 74_37 +1 known missense c.952 p.N318D 1.000 pfam_SMAD_dom_Dwarfin-type,superfamily_SMAD_FHA_domain,smart_SMAD_dom_Dwarfin-type,pfscan_SMAD_dom_Dwarfin-type pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type - no_errors SMAD1 HGNC ENSG00000170365 110 0 0 96 8 7.69231 TKTL2 0 genome.wustl.edu 37 4 164394749 164394749 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 164394749 164394749 C T SNP TKTL2 ENST00000280605 human ensembl 74_37 -1 known silent c.138 p.A46 0.133 pfam_Transketolase_N pfam_Transketolase_N,pfam_Transketolase-like_Pyr-bd,pfam_Transketolase_C,pfam_DH_E1,superfamily_Transketo_C/Pyr-ferredox_oxred,smart_Transketolase-like_Pyr-bd - no_errors TKTL2 HGNC ENSG00000151005 59 0 0 36 8 18.1818 CABS1 0 genome.wustl.edu 37 4 71200811 71200811 + Nonsense_Mutation SNP A A T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 71200811 71200811 A T SNP CABS1 ENST00000273936 human ensembl 74_37 +1 known nonsense c.55 p.K19* 0.002 NULL NULL - no_errors CABS1 HGNC ENSG00000145309 96 0 0 60 13 17.8082 MUC7 0 genome.wustl.edu 37 4 71347381 71347381 + Missense_Mutation SNP C C G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 71347381 71347381 C G SNP MUC7 ENST00000304887 human ensembl 74_37 +1 known missense c.920 p.P307R 0.109 NULL NULL - no_errors MUC7 HGNC ENSG00000171195 313 0 0 179 18 9.13706 PF4 0 genome.wustl.edu 37 4 74846961 74846961 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 74846961 74846961 G A SNP PF4 ENST00000296029 human ensembl 74_37 -1 known missense c.266 p.P89L 0.001 pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC pfam_Chemokine_IL8-like_dom,superfamily_Chemokine_IL8-like_dom,smart_Chemokine_IL8-like_dom,prints_Chemokine_CXC - no_errors PF4 HGNC ENSG00000163737 81 0 0 49 15 23.4375 SORCS2 0 genome.wustl.edu 37 4 7728538 7728538 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 7728538 7728538 C T SNP SORCS2 ENST00000507866 human ensembl 74_37 +1 known missense c.2777 p.T926M 0.876 superfamily_PKD_dom pfam_PKD_dom,superfamily_PKD_dom,smart_VPS10,smart_PKD/Chitinase_dom,pfscan_PKD_dom - no_errors SORCS2 HGNC ENSG00000184985 163 0 0 69 32 31.6832 FRAS1 0 genome.wustl.edu 37 4 79229294 79229294 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 79229294 79229294 G A SNP FRAS1 ENST00000264895 human ensembl 74_37 +1 known missense c.1609 p.V537M 0.954 superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat pfam_Calx_beta,pfam_VWF_C,superfamily_Growth_fac_rcpt_N_dom,superfamily_Cadherin-like,smart_VWC_out,smart_VWF_C,smart_Furin_repeat,smart_EG-like_dom,smart_Calx_beta,pfscan_VWF_C - no_errors FRAS1 HGNC ENSG00000138759 42 0 0 28 7 20 ABLIM2 0 genome.wustl.edu 37 4 8098895 8098895 + Missense_Mutation SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 8098895 8098895 A C SNP ABLIM2 ENST00000447017 human ensembl 74_37 -1 known missense c.269 p.I90S 1.000 pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM pfam_Znf_LIM,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Znf_LIM,smart_Villin_headpiece,pfscan_Villin_headpiece,pfscan_Znf_LIM - no_errors ABLIM2 HGNC ENSG00000163995 22 0 0 20 3 13.0435 WDFY3 0 genome.wustl.edu 37 4 85612843 85612843 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 85612843 85612843 T C SNP WDFY3 ENST00000295888 human ensembl 74_37 -1 known missense c.9145 p.T3049A 1.000 superfamily_WD40_repeat_dom pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors WDFY3 HGNC ENSG00000163625 111 0 0 91 12 11.6505 PTPN13 0 genome.wustl.edu 37 4 87684044 87684044 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 4 87684044 87684044 C T SNP PTPN13 ENST00000436978 human ensembl 74_37 +1 known missense c.3718 p.R1240W 0.985 pirsf_Tyr_Pase_non-rcpt_typ-13 pirsf_Tyr_Pase_non-rcpt_typ-13,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_PDZ,pfam_FERM_central,pfam_FERM_PH-like_C,pfam_FERM_N,superfamily_FERM_central,superfamily_PDZ,superfamily_PAZ_dom,smart_KIND,smart_Band_41_domain,smart_PDZ,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,prints_Band_41_fam,pfscan_FERM_domain,pfscan_PDZ,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt - no_errors PTPN13 HGNC ENSG00000163629 107 0 0 68 5 6.84932 AQPEP 0 genome.wustl.edu 37 5 115329482 115329482 + Missense_Mutation SNP G G T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 5 115329482 115329482 G T SNP AQPEP ENST00000357872 human ensembl 74_37 +1 known missense c.1305 p.W435C 1.000 pfam_Peptidase_M1_N,prints_Peptidase_M1_N pfam_Peptidase_M1_N,prints_Peptidase_M1_N - no_errors AQPEP Uniprot_gn ENSG00000172901 83 0 0 91 8 8.08081 TNFAIP8 0 genome.wustl.edu 37 5 118728940 118728940 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 5 118728940 118728940 G A SNP TNFAIP8 ENST00000504771 human ensembl 74_37 +1 known missense c.461 p.R154Q 1.000 pfam_DUF758 pfam_DUF758 - no_errors TNFAIP8 HGNC ENSG00000145779 153 0 0 88 57 39.3103 ADAMTS19 0 genome.wustl.edu 37 5 128984637 128984637 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 5 128984637 128984637 T G SNP ADAMTS19 ENST00000274487 human ensembl 74_37 +1 known missense c.2132 p.L711R 0.992 NULL pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS - no_errors ADAMTS19 HGNC ENSG00000145808 156 0 0 140 14 9.09091 ACSL6 0 genome.wustl.edu 37 5 131309069 131309069 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 5 131309069 131309069 G A SNP ACSL6 ENST00000296869 human ensembl 74_37 -1 known missense c.1093 p.R365C 0.037 pfam_AMP-dep_Synth/Lig pfam_AMP-dep_Synth/Lig - no_errors ACSL6 HGNC ENSG00000164398 85 0 0 54 5 8.47458 SEC24A 0 genome.wustl.edu 37 5 134010343 134010343 + Nonsense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 5 134010343 134010343 C T SNP SEC24A ENST00000398844 human ensembl 74_37 +1 known nonsense c.856 p.R286* 0.991 NULL pfam_Sec23/24_trunk_dom,pfam_Sec23/24_helical_dom,pfam_Sec23_24_beta_S,pfam_Znf_Sec23_Sec24,pfam_Gelsolin_dom,superfamily_Sec23/24_helical_dom - no_errors SEC24A HGNC ENSG00000113615 101 0 0 87 8 8.42105 PCDHA10 0 genome.wustl.edu 37 5 140236619 140236619 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 5 140236619 140236619 T C SNP PCDHA10 ENST00000307360 human ensembl 74_37 +1 known missense c.986 p.M329T 0.184 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin - no_errors PCDHA10 HGNC ENSG00000250120 144 0 0 86 59 40.6897 PCDHB4 0 genome.wustl.edu 37 5 140503423 140503423 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 5 140503423 140503423 G A SNP PCDHB4 ENST00000194152 human ensembl 74_37 +1 known missense c.1843 p.G615S 0.007 pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin - no_errors PCDHB4 HGNC ENSG00000081818 179 0 0 112 69 38.1215 CYFIP2 0 genome.wustl.edu 37 5 156768085 156768085 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 5 156768085 156768085 C T SNP CYFIP2 ENST00000318218 human ensembl 74_37 +1 known missense c.2668 p.R890W 1.000 pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int - no_errors CYFIP2 HGNC ENSG00000055163 86 0 0 66 10 13.1579 ATP10B 0 genome.wustl.edu 37 5 160029609 160029609 + Missense_Mutation SNP A A T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 5 160029609 160029609 A T SNP ATP10B ENST00000327245 human ensembl 74_37 -1 known missense c.3338 p.V1113E 1.000 tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase pfam_ATPase_P-typ_transduc_dom_A,pfam_HAD-like_dom,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase - no_errors ATP10B HGNC ENSG00000118322 77 0 0 32 18 36 FOXI1 0 genome.wustl.edu 37 5 169533337 169533337 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 5 169533337 169533337 T C SNP FOXI1 ENST00000306268 human ensembl 74_37 +1 known missense c.376 p.Y126H 1.000 pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head - no_errors FOXI1 HGNC ENSG00000168269 27 0 0 21 3 12.5 FBXW11 0 genome.wustl.edu 37 5 171305023 171305023 + Silent SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 5 171305023 171305023 A C SNP FBXW11 ENST00000265094 human ensembl 74_37 -1 known silent c.900 p.S300 0.005 pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep pfam_WD40_repeat,pfam_Beta-TrCP_D,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep - no_errors FBXW11 HGNC ENSG00000072803 65 0 0 61 9 12.8571 NKX2-5 0 genome.wustl.edu 37 5 172659820 172659820 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 5 172659820 172659820 C T SNP NKX2-5 ENST00000329198 human ensembl 74_37 -1 known missense c.727 p.V243M 1.000 NULL pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom,prints_Homeobox_metazoa - no_errors NKX2-5 HGNC ENSG00000183072 41 0 0 30 3 9.09091 GRM6 0 genome.wustl.edu 37 5 178408716 178408716 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 5 178408716 178408716 T C SNP GRM6 ENST00000231188 human ensembl 74_37 -1 known missense c.2576 p.K859R 0.994 pfscan_GPCR_3_C,prints_GPCR_3_mtglu_rcpt_6 pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,superfamily_Peripla_BP_I,pfscan_GPCR_3_C,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4 - no_errors GRM6 HGNC ENSG00000113262 143 0 0 113 13 10.3175 NSUN2 0 genome.wustl.edu 37 5 6604732 6604732 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 5 6604732 6604732 G A SNP NSUN2 ENST00000264670 human ensembl 74_37 -1 known missense c.1804 p.R602W 1.000 NULL pfam_Fmu/NOL1/Nop2p,prints_RCMT,prints_RCMT_NCL1 - no_errors NSUN2 HGNC ENSG00000037474 88 0 0 64 30 31.9149 TBC1D32 0 genome.wustl.edu 37 6 121563368 121563368 + Missense_Mutation SNP A A T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 121563368 121563368 A T SNP TBC1D32 ENST00000275159 human ensembl 74_37 -1 putative missense c.2136 p.N712K 0.813 NULL superfamily_Rab-GTPase-TBC_dom - no_errors TBC1D32 HGNC ENSG00000146350 87 0 0 58 13 18.3099 KIAA0408 0 genome.wustl.edu 37 6 127771272 127771272 + Missense_Mutation SNP C C G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 127771272 127771272 C G SNP KIAA0408 ENST00000483725 human ensembl 74_37 -1 novel missense c.361 p.E121Q 0.819 NULL NULL - no_errors KIAA0408 HGNC ENSG00000189367 152 0 0 88 66 42.8571 IL22RA2 0 genome.wustl.edu 37 6 137476154 137476154 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 137476154 137476154 G A SNP IL22RA2 ENST00000296980 human ensembl 74_37 -1 known silent c.396 p.Y132 0.639 superfamily_Fibronectin_type3 pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3 - no_errors IL22RA2 HGNC ENSG00000164485 200 0 0 169 20 10.582 AIG1 0 genome.wustl.edu 37 6 143605350 143605350 + Missense_Mutation SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 143605350 143605350 G C SNP AIG1 ENST00000275235 human ensembl 74_37 +1 known missense c.503 p.G168A 1.000 pfam_Far-17a_AIG1 pfam_Far-17a_AIG1 - no_errors AIG1 HGNC ENSG00000146416 53 0 0 41 8 16.3265 ZDHHC14 0 genome.wustl.edu 37 6 158093811 158093811 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 158093811 158093811 C T SNP ZDHHC14 ENST00000359775 human ensembl 74_37 +1 known missense c.1124 p.T375M 0.051 NULL pfam_Znf_DHHC_palmitoyltrfase,pfscan_Znf_DHHC_palmitoyltrfase - no_errors ZDHHC14 HGNC ENSG00000175048 69 0 0 42 8 16 HIST1H1E 0 genome.wustl.edu 37 6 26157095 26157095 + Missense_Mutation SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 26157095 26157095 G C SNP HIST1H1E ENST00000304218 human ensembl 74_37 +1 known missense c.477 p.K159N 1.000 NULL pfam_Histone_H1/H5_H15,smart_Histone_H1/H5_H15,prints_Histone_H5 - no_errors HIST1H1E HGNC ENSG00000168298 29 0 0 11 5 31.25 ZNF184 0 genome.wustl.edu 37 6 27419285 27419285 + Missense_Mutation SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 27419285 27419285 G C SNP ZNF184 ENST00000211936 human ensembl 74_37 -1 known missense c.2053 p.L685V 0.880 pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2 pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box - no_errors ZNF184 HGNC ENSG00000096654 120 0 0 85 46 35.1145 SCAND3 0 genome.wustl.edu 37 6 28542681 28542681 + Missense_Mutation SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 28542681 28542681 A C SNP SCAND3 ENST00000452236 human ensembl 74_37 -1 known missense c.1801 p.L601V 0.989 NULL pfam_Tscrpt_reg_SCAN,pfam_Integrase_cat-core,pfam_HATC_dom_C,superfamily_Retrov_capsid_C,superfamily_RNaseH-like_dom,smart_Tscrpt_reg_SCAN,pfscan_Integrase_cat-core,pfscan_Tscrpt_reg_SCAN - no_errors SCAND3 HGNC ENSG00000232040 50 0 0 28 24 46.1538 POLH 0 genome.wustl.edu 37 6 43582081 43582081 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 43582081 43582081 G A SNP POLH ENST00000372236 human ensembl 74_37 +1 known silent c.1929 p.P643 0.034 pirsf_DNA_pol_eta pfam_DNA_repair_prot_UmuC-like,pfam_DNA_pol_Y-fam_little_finger,superfamily_DNA_pol_Y-fam_little_finger,pirsf_DNA_pol_eta,pfscan_DNA_repair_prot_UmuC-like_N - no_errors POLH HGNC ENSG00000170734 277 0 0 234 36 13.3333 BAI3 0 genome.wustl.edu 37 6 69348631 69348631 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 69348631 69348631 T G SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.64 p.F22V 1.000 NULL pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 120 0 0 97 11 10.1852 BAI3 0 genome.wustl.edu 37 6 70037721 70037721 + Missense_Mutation SNP C C G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 70037721 70037721 C G SNP BAI3 ENST00000370598 human ensembl 74_37 +1 known missense c.2975 p.A992G 1.000 pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like,prints_GPCR_2_secretin-like pfam_GPCR_2_secretin-like,pfam_DUF3497,pfam_Thrombospondin_1_rpt,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,pfscan_CUB_dom,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like - no_errors BAI3 HGNC ENSG00000135298 77 0 0 50 9 15.2542 COL12A1 0 genome.wustl.edu 37 6 75892916 75892916 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 75892916 75892916 G A SNP COL12A1 ENST00000322507 human ensembl 74_37 -1 known missense c.1741 p.R581C 0.998 pfam_VWF_A,smart_VWF_A,pfscan_VWF_A pfam_Fibronectin_type3,pfam_VWF_A,pfam_Collagen,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_VWF_A,smart_Laminin_G,pfscan_Fibronectin_type3,pfscan_VWF_A - no_errors COL12A1 HGNC ENSG00000111799 116 0 0 91 13 12.5 MDN1 0 genome.wustl.edu 37 6 90403852 90403852 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 90403852 90403852 C T SNP MDN1 ENST00000369393 human ensembl 74_37 -1 known silent c.9822 p.L3274 0.888 pirsf_Midasin pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A - no_errors MDN1 HGNC ENSG00000112159 141 0 0 90 19 17.4312 EPHA7 0 genome.wustl.edu 37 6 94120278 94120278 + Missense_Mutation SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 94120278 94120278 A C SNP EPHA7 ENST00000369303 human ensembl 74_37 -1 known missense c.773 p.V258G 1.000 pirsf_Tyr_kinase_ephrin_rcpt,superfamily_Growth_fac_rcpt_N_dom pirsf_Tyr_kinase_ephrin_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt_N_dom,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_dom - no_errors EPHA7 HGNC ENSG00000135333 121 0 0 68 26 27.6596 AASS 0 genome.wustl.edu 37 7 121773649 121773649 + Silent SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 7 121773649 121773649 G C SNP AASS ENST00000393376 human ensembl 74_37 -1 known silent c.132 p.P44 0.043 pfam_AlaDH/PNT_N pfam_Saccharopine_DH/HSpermid_syn,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N - no_errors AASS HGNC ENSG00000008311 114 0 0 114 10 8.06452 TMEM176B 0 genome.wustl.edu 37 7 150493586 150493586 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 7 150493586 150493586 G A SNP TMEM176B ENST00000326442 human ensembl 74_37 -1 known silent c.72 p.N24 0.019 NULL pfam_CD20-like,superfamily_MFS_dom_general_subst_transpt - no_errors TMEM176B HGNC ENSG00000106565 117 0 0 60 26 30.2326 XRCC2 0 genome.wustl.edu 37 7 152345889 152345889 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 7 152345889 152345889 G A SNP XRCC2 ENST00000359321 human ensembl 74_37 -1 known silent c.681 p.L227 0.990 superfamily_P-loop_NTPase pfam_DNA_recomb/repair_Rad51_C,superfamily_P-loop_NTPase,pfscan_DNA_recomb_RecA/RadB_ATP-bd - no_errors XRCC2 HGNC ENSG00000196584 173 0 0 125 37 22.8395 KLHL7 0 genome.wustl.edu 37 7 23164761 23164761 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 7 23164761 23164761 A G SNP KLHL7 ENST00000339077 human ensembl 74_37 +1 known missense c.412 p.K138E 1.000 pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,pirsf_Kelch-like_gigaxonin pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like - no_errors KLHL7 HGNC ENSG00000122550 94 0 0 82 13 13.6842 TYW1 0 genome.wustl.edu 37 7 66482880 66482880 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 7 66482880 66482880 C T SNP TYW1 ENST00000359626 human ensembl 74_37 +1 known missense c.611 p.A204V 0.971 pfam_Flavodoxin/NO_synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin pfam_rSAM,pfam_Flavodoxin/NO_synth,pfam_tRNA_wybutosine-synth,pfscan_Flavodoxin/NO_synth,prints_Flavdoxin - no_errors TYW1 HGNC ENSG00000198874 99 0 0 73 5 6.41026 CD36 0 genome.wustl.edu 37 7 80292468 80292468 + Missense_Mutation SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 7 80292468 80292468 G C SNP CD36 ENST00000309881 human ensembl 74_37 +1 known missense c.592 p.V198L 0.531 pfam_CD36,prints_CD36_antigen pfam_CD36,prints_CD36_antigen,prints_CD36 - no_errors CD36 HGNC ENSG00000135218 128 0 0 98 14 12.5 STEAP2 0 genome.wustl.edu 37 7 89856419 89856419 + Silent SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 7 89856419 89856419 T C SNP STEAP2 ENST00000287908 human ensembl 74_37 +1 known silent c.627 p.F209 1.000 NULL pfam_Fe3_Rdtase_TM_dom - no_errors STEAP2 HGNC ENSG00000157214 128 0 0 100 20 16.6667 NPTX2 0 genome.wustl.edu 37 7 98257773 98257773 + Missense_Mutation SNP C C G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 7 98257773 98257773 C G SNP NPTX2 ENST00000265634 human ensembl 74_37 +1 known missense c.1128 p.F376L 1.000 pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin pfam_Pentaxin,superfamily_ConA-like_lec_gl_sf,smart_Pentaxin,prints_Pentaxin - no_errors NPTX2 HGNC ENSG00000106236 25 0 0 24 8 25 VPS13B 0 genome.wustl.edu 37 8 100789121 100789121 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 100789121 100789121 G A SNP VPS13B ENST00000358544 human ensembl 74_37 +1 known missense c.7441 p.V2481I 0.933 NULL pfam_Autophagy-rel_C - no_errors VPS13B HGNC ENSG00000132549 210 1 0.473934 201 21 9.45946 ZFPM2 0 genome.wustl.edu 37 8 106815226 106815226 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 106815226 106815226 A G SNP ZFPM2 ENST00000407775 human ensembl 74_37 +1 known missense c.2916 p.I972M 1.000 NULL smart_Znf_C2H2-like,pfscan_Znf_C2H2 - no_errors ZFPM2 HGNC ENSG00000169946 27 0 0 25 5 16.6667 ANGPT1 0 genome.wustl.edu 37 8 108334209 108334209 + Silent SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 108334209 108334209 G A SNP ANGPT1 ENST00000517746 human ensembl 74_37 -1 known silent c.723 p.T241 0.619 NULL pfam_Fibrinogen_a/b/g_C_dom,superfamily_Fibrinogen_a/b/g_C_dom,smart_Fibrinogen_a/b/g_C_dom - no_errors ANGPT1 HGNC ENSG00000154188 127 0 0 115 24 17.2662 CSMD3 0 genome.wustl.edu 37 8 114326962 114326962 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 114326962 114326962 C T SNP CSMD3 ENST00000297405 human ensembl 74_37 -1 known missense c.239 p.G80D 1.000 pfam_CUB_dom,superfamily_CUB_dom,smart_CUB_dom,pfscan_CUB_dom pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD3 HGNC ENSG00000164796 166 0 0 207 19 8.40708 WISP1 0 genome.wustl.edu 37 8 134233067 134233067 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 134233067 134233067 G A SNP WISP1 ENST00000250160 human ensembl 74_37 +1 known missense c.593 p.R198H 0.682 pirsf_IGFBP_CNN pfam_IGFBP-like,pfam_VWF_C,pfam_Cys_knot,pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_IGFBP-like,smart_VWF_C,smart_Thrombospondin_1_rpt,smart_Cys_knot_C,pirsf_IGFBP_CNN,pfscan_Cys_knot_C,pfscan_Thrombospondin_1_rpt,pfscan_VWF_C - no_errors WISP1 HGNC ENSG00000104415 62 0 0 60 21 25.9259 COL22A1 0 genome.wustl.edu 37 8 139606337 139606337 + Missense_Mutation SNP C C A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 139606337 139606337 C A SNP COL22A1 ENST00000303045 human ensembl 74_37 -1 known missense c.4538 p.R1513L 0.141 pfam_Collagen pfam_Collagen,pfam_VWF_A,superfamily_ConA-like_lec_gl_sf,smart_VWF_A,smart_Laminin_G,pfscan_VWF_A - no_errors COL22A1 HGNC ENSG00000169436 97 0 0 91 24 20.8696 LY6D 0 genome.wustl.edu 37 8 143866833 143866833 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 143866833 143866833 G A SNP LY6D ENST00000301263 human ensembl 74_37 -1 known missense c.191 p.A64V 0.000 pfam_LY6_UPAR,smart_LY6_UPA_recep-like pfam_LY6_UPAR,smart_LY6_UPA_recep-like - no_errors LY6D HGNC ENSG00000167656 67 0 0 60 22 26.8293 CYP11B2 0 genome.wustl.edu 37 8 143999195 143999195 + Missense_Mutation SNP G G T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 143999195 143999195 G T SNP CYP11B2 ENST00000323110 human ensembl 74_37 -1 known missense c.62 p.A21E 0.098 NULL pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_mitochondrial,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450,prints_Cyt_P450_B - no_errors CYP11B2 HGNC ENSG00000179142 228 0 0 228 17 6.93878 CPSF1 0 genome.wustl.edu 37 8 145622772 145622772 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 145622772 145622772 C T SNP CPSF1 ENST00000349769 human ensembl 74_37 -1 known missense c.2315 p.R772Q 0.954 NULL pfam_Cleavage/polyA-sp_fac_asu_C - no_errors CPSF1 HGNC ENSG00000071894 80 0 0 62 31 33.3333 MYOM2 0 genome.wustl.edu 37 8 2092797 2092797 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 2092797 2092797 C T SNP MYOM2 ENST00000262113 human ensembl 74_37 +1 known silent c.4290 p.D1430 0.197 pfam_Ig_I-set,pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like_dom - no_errors MYOM2 HGNC ENSG00000036448 107 0 0 48 41 46.0674 ADAM7 0 genome.wustl.edu 37 8 24344712 24344712 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 24344712 24344712 G A SNP ADAM7 ENST00000175238 human ensembl 74_37 +1 known missense c.973 p.D325N 0.997 pfam_Peptidase_M12B,pfscan_Peptidase_M12B pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_ADAM_Cys-rich,pfam_Blood-coag_inhib_Disintegrin,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,smart_ADAM_Cys-rich,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B,prints_Blood-coag_inhib_Disintegrin - no_errors ADAM7 HGNC ENSG00000069206 58 0 0 46 31 40.2597 CSMD1 0 genome.wustl.edu 37 8 3087592 3087592 + Missense_Mutation SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 3087592 3087592 A G SNP CSMD1 ENST00000520002 human ensembl 74_37 -1 known missense c.4318 p.F1440L 1.000 pfam_Sushi_SCR_CCP,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP pfam_CUB_dom,pfam_Sushi_SCR_CCP,superfamily_CUB_dom,superfamily_Sushi_SCR_CCP,smart_CUB_dom,smart_Sushi_SCR_CCP,pfscan_CUB_dom,pfscan_Sushi_SCR_CCP - no_errors CSMD1 HGNC ENSG00000183117 78 0 0 74 6 7.5 CHRNB3 0 genome.wustl.edu 37 8 42591674 42591674 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 42591674 42591674 C T SNP CHRNB3 ENST00000289957 human ensembl 74_37 +1 known silent c.1290 p.F430 1.000 pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,tigrfam_Neur_channel pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_Nicotinic_acetylcholine_rcpt,prints_Neur_channel,tigrfam_Neur_channel - no_errors CHRNB3 HGNC ENSG00000147432 287 0 0 150 73 32.7354 PXDNL 0 genome.wustl.edu 37 8 52323869 52323869 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 52323869 52323869 G A SNP PXDNL ENST00000356297 human ensembl 74_37 -1 known missense c.2003 p.T668M 0.571 NULL pfam_Haem_peroxidase_animal,pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_VWF_C,pfam_Leu-rich_rpt,superfamily_Haem_peroxidase,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,smart_VWF_C,prints_Haem_peroxidase_animal_subgr,pfscan_VWF_C,pfscan_Haem_peroxidase_animal,pfscan_Ig-like_dom - no_errors PXDNL HGNC ENSG00000147485 20 0 0 13 3 18.75 E2F5 0 genome.wustl.edu 37 8 86115407 86115407 + Silent SNP A A G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 86115407 86115407 A G SNP E2F5 ENST00000256117 human ensembl 74_37 +1 known silent c.423 p.E141 0.201 NULL pfam_E2F_TDP - no_errors E2F5 HGNC ENSG00000133740 49 0 0 50 6 10.7143 ATP6V0D2 0 genome.wustl.edu 37 8 87111221 87111221 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 87111221 87111221 C T SNP ATP6V0D2 ENST00000285393 human ensembl 74_37 +1 known missense c.14 p.A5V 0.136 pirsf_ATPase_V0-cplx_dsu pfam_ATPase_V0-cplx_csu/dsu,superfamily_ATPase_V0-cplx_csu/dsu,pirsf_ATPase_V0-cplx_dsu - no_errors ATP6V0D2 HGNC ENSG00000147614 118 0 0 114 9 7.31707 CNBD1 0 genome.wustl.edu 37 8 88365898 88365898 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 88365898 88365898 T C SNP CNBD1 ENST00000518476 human ensembl 74_37 +1 known missense c.1187 p.L396P 0.229 pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom - no_errors CNBD1 HGNC ENSG00000176571 67 0 0 59 17 22.3684 TSPYL5 0 genome.wustl.edu 37 8 98289633 98289633 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 8 98289633 98289633 T C SNP TSPYL5 ENST00000322128 human ensembl 74_37 -1 known missense c.440 p.K147R 0.975 NULL pfam_NAP_family - no_errors TSPYL5 HGNC ENSG00000180543 138 0 0 147 14 8.69565 C9orf43 0 genome.wustl.edu 37 9 116183431 116183431 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 9 116183431 116183431 G A SNP C9orf43 ENST00000288462 human ensembl 74_37 +1 known missense c.394 p.V132I 0.003 NULL NULL - no_errors C9orf43 HGNC ENSG00000157653 125 0 0 94 16 14.5455 NUP214 0 genome.wustl.edu 37 9 134098270 134098270 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 9 134098270 134098270 G A SNP NUP214 ENST00000451030 human ensembl 74_37 +1 known missense c.5858 p.G1953E 1.000 NULL smart_WD40_repeat - no_errors NUP214 HGNC ENSG00000126883 120 0 0 66 36 35.2941 C9orf172 0 genome.wustl.edu 37 9 139741626 139741626 + Silent SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 9 139741626 139741626 C T SNP C9orf172 ENST00000436881 human ensembl 74_37 +1 known silent c.2760 p.V920 1.000 NULL NULL - no_errors C9orf172 HGNC ENSG00000232434 43 0 0 44 7 13.7255 CACNA1B 0 genome.wustl.edu 37 9 141016021 141016021 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 9 141016021 141016021 C T SNP CACNA1B ENST00000371355 human ensembl 74_37 +1 known missense c.6593 p.P2198L 1.000 NULL pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_hand_dom,prints_VDCCAlpha1,prints_VDCC_N_a1su,prints_PKD_2 - no_errors CACNA1B HGNC ENSG00000148408 52 0 0 35 7 16.6667 LOC100996870 0 genome.wustl.edu 37 9 66459813 66459813 + RNA SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 9 66459813 66459813 G A SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.049 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 19 0 0 16 5 23.8095 LOC100996870 0 genome.wustl.edu 37 9 66459862 66459862 + RNA SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 9 66459862 66459862 T C SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.133 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 30 0 0 20 3 13.0435 LOC100996870 0 genome.wustl.edu 37 9 66459863 66459863 + RNA SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 9 66459863 66459863 G A SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.135 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 29 0 0 20 3 13.0435 LOC100996870 0 genome.wustl.edu 37 9 66466418 66466418 + RNA SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 9 66466418 66466418 C T SNP LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.006 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 10 0 0 15 3 16.6667 IARS 0 genome.wustl.edu 37 9 95009793 95009793 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 9 95009793 95009793 T G SNP IARS ENST00000375643 human ensembl 74_37 -1 known missense c.2657 p.N886T 1.000 superfamily_tRNAsynth_1a_anticodon-bd pfam_aa-tRNA-synth_Ia,pfam_V/L/I-tRNA-synth_anticodon-bd,pfam_Methionyl/Leucyl_tRNA_Synth,superfamily_Val/Leu/Ile-tRNA-synth_edit,superfamily_tRNAsynth_1a_anticodon-bd,prints_Ile-tRNA-ligase,tigrfam_Ile-tRNA-ligase - no_errors IARS HGNC ENSG00000196305 77 0 0 37 27 42.1875 MT-ND5 0 genome.wustl.edu 37 MT 13757 13757 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd MT 13757 13757 C T SNP MT-ND5 ENST00000361567 human ensembl 74_37 +1 known missense c.1421 p.P474L NULL pfam_NADH_DH_su5_C,tigrfam_NADHpl_OxRdtase_5 pfam_NADH_UbQ/plastoQ_OxRdtase,pfam_NADH_DH_su5_C,pfam_NADH_UbQ_OxRdtase_chain5/L_N,tigrfam_NADHpl_OxRdtase_5 - no_errors MT-ND5 HGNC ENSG00000198786 48 0 0 32 105 76.6423 DCAF12L1 0 genome.wustl.edu 37 X 125685222 125685222 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd X 125685222 125685222 T G SNP DCAF12L1 ENST00000371126 human ensembl 74_37 -1 known missense c.1370 p.N457T 0.999 NULL pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom - no_errors DCAF12L1 HGNC ENSG00000198889 100 0 0 47 62 56.8807 GPR50 0 genome.wustl.edu 37 X 150349386 150349386 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd X 150349386 150349386 T C SNP GPR50 ENST00000218316 human ensembl 74_37 +1 known missense c.1331 p.V444A 0.693 NULL pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_Mel_rcpt_1X,prints_GPCR_Rhodpsn,prints_Melatonin_rcpt,prints_NPY_rcpt - no_errors GPR50 HGNC ENSG00000102195 346 0 0 305 56 15.5125 F8 0 genome.wustl.edu 37 X 154159298 154159298 + Missense_Mutation SNP A A C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 A A Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd X 154159298 154159298 A C SNP F8 ENST00000360256 human ensembl 74_37 -1 known missense c.2767 p.L923V 0.001 NULL pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom - no_errors F8 HGNC ENSG00000185010 65 0 0 36 50 58.1395 CLIC2 0 genome.wustl.edu 37 X 154508537 154508537 + Missense_Mutation SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd X 154508537 154508537 G C SNP CLIC2 ENST00000369449 human ensembl 74_37 -1 known missense c.483 p.D161E 1.000 superfamily_Glutathione-S-Trfase_C-like,tigrfam_Int_Cl_channel superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold,prints_Int_Cl_channel,tigrfam_Int_Cl_channel - no_errors CLIC2 HGNC ENSG00000155962 59 0 0 30 42 58.3333 MAGEB18 0 genome.wustl.edu 37 X 26157988 26157988 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd X 26157988 26157988 C T SNP MAGEB18 ENST00000325250 human ensembl 74_37 +1 known missense c.886 p.P296S 0.077 pfscan_MAGE pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE - no_errors MAGEB18 HGNC ENSG00000176774 33 0 0 11 16 59.2593 DMD 0 genome.wustl.edu 37 X 32563331 32563331 + Missense_Mutation SNP G G C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd X 32563331 32563331 G C SNP DMD ENST00000357033 human ensembl 74_37 -1 known missense c.2113 p.P705A 1.000 pirsf_Dystrophin/utrophin pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_dom,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_dom,pfscan_Znf_ZZ - no_errors DMD HGNC ENSG00000198947 53 0 0 55 8 12.6984 SHROOM4 0 genome.wustl.edu 37 X 50376644 50376644 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd X 50376644 50376644 T G SNP SHROOM4 ENST00000289292 human ensembl 74_37 -1 known missense c.2429 p.N810T 0.889 NULL pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ - no_errors SHROOM4 HGNC ENSG00000158352 147 1 0.675676 66 76 53.5211 FAM155B 0 genome.wustl.edu 37 X 68749674 68749674 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd X 68749674 68749674 C T SNP FAM155B ENST00000252338 human ensembl 74_37 +1 known missense c.1294 p.R432W 1.000 NULL NULL - no_errors FAM155B HGNC ENSG00000130054 55 0 0 30 34 53.125 ERCC6L 0 genome.wustl.edu 37 X 71427962 71427962 + Missense_Mutation SNP C C T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 C C Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd X 71427962 71427962 C T SNP ERCC6L ENST00000334463 human ensembl 74_37 -1 known missense c.655 p.E219K 1.000 pfam_SNF2_N,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,pfscan_Helicase_ATP-bd pfam_SNF2_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_P-loop_NTPase,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_TPR-contain_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C - no_errors ERCC6L HGNC ENSG00000186871 89 0 0 49 67 57.7586 CITED1 0 genome.wustl.edu 37 X 71522051 71522051 + Missense_Mutation SNP G G A TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd X 71522051 71522051 G A SNP CITED1 ENST00000431381 human ensembl 74_37 -1 known missense c.182 p.A61V 0.002 pfam_CITED pfam_CITED - no_errors CITED1 HGNC ENSG00000125931 14 0 0 6 10 62.5 PNPLA4 0 genome.wustl.edu 37 X 7880119 7880119 + Missense_Mutation SNP T T G TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd X 7880119 7880119 T G SNP PNPLA4 ENST00000381042 human ensembl 74_37 -1 known missense c.427 p.S143R 1.000 pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase - no_errors PNPLA4 HGNC ENSG00000006757 57 0 0 77 19 19.7917 DACH2 0 genome.wustl.edu 37 X 85403712 85403712 + Missense_Mutation SNP T T C TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 T T Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd X 85403712 85403712 T C SNP DACH2 ENST00000373125 human ensembl 74_37 +1 known missense c.88 p.S30P 1.000 NULL pfam_Transform_Ski,superfamily_DNA-bd_dom_put - no_errors DACH2 HGNC ENSG00000126733 19 0 0 3 24 88.8889 NRAS 0 genome.wustl.edu 37 1 115251215 115251216 + Frame_Shift_Ins INS - - T TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 115251215 115251216 - T INS NRAS ENST00000369535 human ensembl 74_37 -1 known frame_shift_ins c.511_510 p.L170fs 1.000:0.991 superfamily_P-loop_NTPase pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom - no_errors NRAS HGNC ENSG00000213281 177 0 0 129 59 31.383 ARID1A 0 genome.wustl.edu 37 1 27023751 27023755 + Frame_Shift_Del DEL CTCCC CTCCC - TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 CTCCC CTCCC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 1 27023751 27023755 CTCCC - DEL ARID1A ENST00000324856 human ensembl 74_37 +1 known frame_shift_del c.857_861 p.P287fs 1.000:1.000:1.000:1.000:0.996 NULL pfam_DUF3518,pfam_ARID/BRIGHT_DNA-bd,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd - no_errors ARID1A HGNC ENSG00000117713 15 0 0 13 6 31.5789 CBL 0 genome.wustl.edu 37 11 119077233 119077235 + In_Frame_Del DEL CAC CAC - TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 CAC CAC Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 11 119077233 119077235 CAC - DEL CBL ENST00000264033 human ensembl 74_37 +1 known in_frame_del c.106_108 p.H39in_frame_del 0.999:1.000:1.000 NULL pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/Ts_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING - no_errors CBL HGNC ENSG00000110395 10 0 0 4 2 33.3333 MGAT5 0 genome.wustl.edu 37 2 135027982 135027985 + Frame_Shift_Del DEL ATTA ATTA - TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 ATTA ATTA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 135027982 135027985 ATTA - DEL MGAT5 ENST00000281923 human ensembl 74_37 +1 known frame_shift_del c.267_270 p.L90fs 0.562:0.571:1.000:1.000 NULL NULL - no_errors MGAT5 HGNC ENSG00000152127 113 0 0 106 10 8.62069 HDLBP 0 genome.wustl.edu 37 2 242179184 242179185 + In_Frame_Ins INS - - GTG TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 - - Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 2 242179184 242179185 - GTG INS HDLBP ENST00000310931 human ensembl 74_37 -1 known in_frame_ins c.2443_2442 p.814in_frame_insH 1.000:0.998 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1 - no_errors HDLBP HGNC ENSG00000115677 113 0 0 71 16 18.3908 PPP1R11 0 genome.wustl.edu 37 6 30036476 30036479 + Splice_Site DEL GTGA GTGA - TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 GTGA GTGA Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 30036476 30036479 GTGA - DEL PPP1R11 ENST00000376772 human ensembl 74_37 +1 known splice_site_del c.178+1_178+1 e2+1 1.000:1.000:1.000:1.000 - - - no_errors PPP1R11 HGNC ENSG00000204619 66 0 0 62 10 13.8889 PSMB9 0 genome.wustl.edu 37 6 32825114 32825116 + In_Frame_Del DEL CAG CAG - TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 CAG CAG Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 6 32825114 32825116 CAG - DEL PSMB9 ENST00000374859 human ensembl 74_37 +1 known in_frame_del c.203_205 p.A70in_frame_del 0.984:0.049:0.995 pfam_Proteasome_sua/b pfam_Proteasome_sua/b,prints_Pept_T1A_subB - no_errors PSMB9 HGNC ENSG00000240065 108 0 0 71 6 7.79221 LOC100996870 0 genome.wustl.edu 37 9 66466800 66466800 + RNA DEL G G - TCGA-RD-A7C1-01A-11D-A32N-08 TCGA-RD-A7C1-10A-01D-A32N-08 G G Unknown Untested Somatic Phase_IV WXS none Illumina HiSeq 9525681b-7e66-4fd3-8eb0-583ba442b4e1 2b46b8b7-28da-4e67-a5ae-77c9e631aabd 9 66466800 66466800 G - DEL LOC100996870 ENST00000424345 human ensembl 74_37 +1 known rna NULL NULL 0.134 - - - no_errors RP11-262H14.1 Clone_based_vega_gene ENSG00000238113 10 0 0 17 3 15